About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Emx1tm1(cre)Krj
targeted mutation 1, Kevin R Jones
MGI:2684610
Summary 72 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Emx1tm1(cre)Krj/Emx1tm1(cre)Krj involves: 129S2/SvPas * C57BL/6 MGI:2684615
cn2
Emx1tm1(cre)Krj/Emx1+
Ptpn11tm6Bgn/Ptpn11+
B6.129S-Ptpn11tm6Bgn Emx1tm1(cre)Krj MGI:6095197
cn3
Slc17a6tm1.1Jder/Slc17a6tm1.1Jder
Emx1tm1(cre)Krj/Emx1+
B6.Cg-Emx1tm1(cre)Krj Slc17a6tm1.1Jder MGI:5469863
cn4
Glultm1.1Ncd/Glultm1.1Ncd
Emx1tm1(cre)Krj/Emx1+
B6.Cg-Glultm1.1Ncd Emx1tm1(cre)Krj MGI:6285755
cn5
Magohtm1c(KOMP)Dlsi/Magoh+
Emx1tm1(cre)Krj/Emx1+
B6.Cg-Magohtm1c(KOMP)Dlsi Emx1tm1(cre)Krj MGI:5695285
cn6
Emx1tm1(cre)Krj/?
Rai1tm2.1Luo/Rai1tm2.1Luo
either: (involves: 129S1/Sv * 129S2/SvPas * C57BL/6) or (involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * C57BL/6) MGI:5817664
cn7
Pdcd10tm1Wami/Pdcd10tm1Wami
Emx1tm1(cre)Krj/Emx1+
involves: 129 * 129S2/SvPas * C57BL/6 MGI:5002699
cn8
Celf4tm1.1Frk/Celf4tm1.1Frk
Emx1tm1(cre)Krj/?
involves: 129 * C57BL/6J MGI:6194753
cn9
Nrg1tm1Fej/Nrg1tm1Fej
Emx1tm1(cre)Krj/?
involves: 129P2/OlaHsd * 129S2/SvPas MGI:3835560
cn10
Celsr3tm1Agof/Celsr3tm2Agof
Emx1tm1(cre)Krj/Emx1+
involves: 129P2/OlaHsd * 129S2/SvPas MGI:3795740
cn11
Tor1atm1Wtd/Tor1atm3.1Wtd
Emx1tm1(cre)Krj/Emx1+
involves: 129S1/Sv * 129S2/SvPas * 129S6/SvEvTac * C57BL/6J MGI:5605975
cn12
Tor1atm2Wtd/Tor1atm3.1Wtd
Emx1tm1(cre)Krj/Emx1+
involves: 129S1/Sv * 129S2/SvPas * 129S6/SvEvTac * C57BL/6J MGI:6710956
cn13
Tor1atm1Wtd/Tor1atm3.1Wtd
Tor1btm1Wtd/Tor1btm1.1Wtd
Emx1tm1(cre)Krj/Emx1+
involves: 129S1/Sv * 129S2/SvPas * 129S6/SvEvTac * C57BL/6J MGI:6710955
cn14
Tor1atm2Wtd/Tor1atm3.1Wtd
Tor1btm1Wtd/Tor1b+
Emx1tm1(cre)Krj/Emx1+
involves: 129S1/Sv * 129S2/SvPas * 129S6/SvEvTac * C57BL/6J MGI:6710960
cn15
Tor1atm2Wtd/Tor1atm3.1Wtd
Tor1btm1Wtd/Tor1btm1Wtd
Emx1tm1(cre)Krj/Emx1+
involves: 129S1/Sv * 129S2/SvPas * 129S6/SvEvTac * C57BL/6J MGI:6710961
cn16
Pals1tm1Caw/Pals1tm1Caw
Tsc2tm1.1Mjg/Tsc2tm1.1Mjg
Emx1tm1(cre)Krj/Emx1+
involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ MGI:4459298
cn17
Celsr1tm1Fati/Celsr1tm1Fati
Emx1tm1(cre)Krj/Emx1+
involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ MGI:4430220
cn18
Slc12a2tm1.1Jheb/Slc12a2tm1.1Jheb
Emx1tm1(cre)Krj/Emx1+
involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * C57BL/6 MGI:5538342
cn19
Pax6tm2Pgr/Pax6tm2Pgr
Smarcc2tm1.1Stoy/Smarcc2tm1.1Stoy
Emx1tm1(cre)Krj/Emx1+
involves: 129S1/Sv * 129S2/SvPas * C57BL/6 MGI:5504444
cn20
Pnkptm1.1Pmc/Pnkptm1.1Pmc
Emx1tm1(cre)Krj/Emx1+
involves: 129S1/Sv * 129S2/SvPas * C57BL/6 MGI:5795755
cn21
Pax6tm2Pgr/Pax6tm2Pgr
Smarcc2tm1.1Stoy/Smarcc2+
Emx1tm1(cre)Krj/Emx1+
involves: 129S1/Sv * 129S2/SvPas * C57BL/6 MGI:5504443
cn22
Smarcc2tm1.1Stoy/Smarcc2tm1.1Stoy
Emx1tm1(cre)Krj/Emx1+
involves: 129S1/Sv * 129S2/SvPas * C57BL/6 MGI:5504445
cn23
Sp2tm1.1Htg/Sp2tm1.1Htg
Emx1tm1(cre)Krj/Emx1+
involves: 129S2/SvPas MGI:5471312
cn24
Orc3tm1.1Zhua/Orc3tm1.1Zhua
Emx1tm1(cre)Krj/Emx1+
involves: 129S2/SvPas MGI:4947981
cn25
Pals1tm1Caw/Pals1+
Emx1tm1(cre)Krj/Emx1+
involves: 129S2/SvPas MGI:4459297
cn26
Pals1tm1Caw/Pals1tm1Caw
Emx1tm1(cre)Krj/Emx1+
involves: 129S2/SvPas MGI:4459295
cn27
Dact1tm1.1Bnrc/Dact1tm1.2Bnrc
Emx1tm1(cre)Krj/Emx1+
involves: 129S2/SvPas MGI:4442996
cn28
Emx1tm1(cre)Krj/Emx1+
Tg(CMV-GFP,-Smarcc2,-lacZ)#Stoy/0
involves: 129S2/SvPas MGI:5504448
cn29
Emx1tm1(cre)Krj/Emx1+
Wnt3atm2Eag/Wnt3a+
involves: 129S2/SvPas MGI:3616432
cn30
Pomt2tm1.1Hhu/Pomt2tm1.1Hhu
Emx1tm1(cre)Krj/Emx1+
involves: 129S2/SvPas * 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6J MGI:5302860
cn31
Knl1tm1c(EUCOMM)Hmgu/Knl1tm1c(EUCOMM)Hmgu
Emx1tm1(cre)Krj/Emx1+
involves: 129S2/SvPas * 129S4/SvJaeSor * C57BL/6N MGI:6358251
cn32
Rem2tm1c(EUCOMM)Hmgu/Rem2tm1c(EUCOMM)Hmgu
Emx1tm1(cre)Krj/Emx1+
involves: 129S2/SvPas * 129S4/SvJaeSor * C57BL/6N MGI:6192624
cn33
Zfp335tm1.1Caw/Zfp335tm1.1Caw
Emx1tm1(cre)Krj/Emx1+
involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6 MGI:5470140
cn34
Zfp335tm1.1Caw/Zfp335+
Emx1tm1(cre)Krj/Emx1+
involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6 MGI:5470141
cn35
Bhlhe22tm2.1Meg/Bhlhe22tm2.1Meg
Emx1tm1(cre)Krj/Emx1+
involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6J MGI:5315767
cn36
Islr2tm1.1Ddg/Islr2tm2.1Ddg
Emx1tm1(cre)Krj/Emx1+
involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6 * SJL MGI:5569795
cn37
Epha4tm1.1Bzh/Epha4tm1.2Bzh
Emx1tm1(cre)Krj/Emx1+
involves: 129S2/SvPas * 129S7/SvEvBrd MGI:5614429
cn38
Atxn1tm2Hzo/Atxn1tm2Hzo
Atxn1ltm2Hzo/Atxn1ltm2Hzo
Emx1tm1(cre)Krj/Emx1+
involves: 129S2/SvPas * 129S7/SvEvBrd MGI:6275610
cn39
Itgb1tm1Mll/Itgb1tm1Mll
Emx1tm1(cre)Krj/Emx1+
involves: 129S2/SvPas * 129X1/SvJ MGI:4947982
cn40
Rnu11tm1.1Rank/Rnu11tm1.1Rank
Emx1tm1(cre)Krj/Emx1+
involves: 129S2/SvPas * 129X1/SvJ MGI:6393904
cn41
Emx1tm1(cre)Krj/Emx1+
Numbtm1Ynj/Numbtm1Ynj
involves: 129S2/SvPas * 129X1/SvJ * CD-1 MGI:3582334
cn42
Emx1tm1(cre)Krj/Emx1+
Numbtm1Ynj/Numbtm1Ynj
Numbltm1Wmz/Numbltm1Wmz
involves: 129S2/SvPas * 129X1/SvJ * CD-1 MGI:3582335
cn43
Pik3r4mbe/Pik3r4tm1.1Mpnd
Emx1tm1(cre)Krj/Emx1+
involves: 129S2/SvPas * C3H/HeH * C57BL/6 MGI:6331079
cn44
Emx1tm1(cre)Krj/?
Kcnq3tm1.1Avtz/Kcnq3tm1.1Avtz
involves: 129S2/SvPas * C57BL/6 MGI:5607738
cn45
Pik3r4tm1.1Mpnd/Pik3r4tm1.1Mpnd
Emx1tm1(cre)Krj/Emx1+
involves: 129S2/SvPas * C57BL/6 MGI:6331087
cn46
Emx1tm1(cre)Krj/Emx1+
Mycbp2tm1Adia/Mycbp2tm1Adia
involves: 129S2/SvPas * C57BL/6 MGI:3760657
cn47
Emx1tm1(cre)Krj/?
Kcnq2tm1.1Avtz/Kcnq2tm1.1Avtz
involves: 129S2/SvPas * C57BL/6 MGI:5607737
cn48
Cictm1c(KOMP)Wtsi/Cictm1c(KOMP)Wtsi
Emx1tm1(cre)Krj/Emx1+
involves: 129S2/SvPas * C57BL/6 * C57BL/6N MGI:6275604
cn49
Bdnftm1Krj/Bdnftm1Lfr
Emx1tm1(cre)Krj/Emx1+
involves: 129S2/SvPas * C57BL/6J MGI:3584256
cn50
Nr2f1tm2.1Mist/Nr2f1tm2.1Mist
Emx1tm1(cre)Krj/Emx1+
involves: 129S2/SvPas * C57BL/6J MGI:5523193
cn51
Bdnftm1Krj/Bdnf+
Emx1tm1(cre)Krj/Emx1+
involves: 129S2/SvPas * C57BL/6J MGI:3584257
cn52
Emx1tm1(cre)Krj/Emx1+
Topbp1tm1Pmc/Topbp1tm1Pmc
involves: 129S2/SvPas * C57BL/6J MGI:5316226
cn53
Eif4a3tm1.1Dlsi/Eif4a3+
Emx1tm1(cre)Krj/Emx1+
involves: 129S2/SvPas * C57BL/6J MGI:6382122
cn54
Atrtm2Bal/Atrtm2Bal
Emx1tm1(cre)Krj/Emx1+
involves: 129S2/SvPas * C57BL/6J MGI:5316224
cn55
Afdntm1c(EUCOMM)Hmgu/Afdntm1c(EUCOMM)Hmgu
Emx1tm1(cre)Krj/Emx1+
involves: 129S2/SvPas * C57BL/6J * C57BL/6N MGI:5607285
cn56
Brpf1tm1c(EUCOMM)Wtsi/Brpf1tm1c(EUCOMM)Wtsi
Emx1tm1(cre)Krj/Emx1+
involves: 129S2/SvPas * C57BL/6J * C57BL/6N MGI:5896655
cn57
Cmtr1tm1b(EUCOMM)Hmgu/Cmtr1tm1b(EUCOMM)Hmgu
Emx1tm1(cre)Krj/Emx1+
Tg(Thy1-YFP)HJrs/0
involves: 129S2/SvPas * C57BL/6J * C57BL/6N * CBA MGI:6502664
cn58
Kat6atm1c(EUCOMM)Wtsi/Kat6atm1c(EUCOMM)Wtsi
Emx1tm1(cre)Krj/Emx1+
involves: 129S2/SvPas * C57BL/6J * C57BL/6N * CD-1 MGI:5896662
cn59
Emx1tm1(cre)Krj/Emx1+
Rcor2tm1c(EUCOMM)Wtsi/Rcor2tm1c(EUCOMM)Wtsi
involves: 129S2/SvPas * C57BL/6N MGI:5897782
cn60
Chn1tm1Ito/Chn1tm1.1Ito
Emx1tm1(cre)Krj/Emx1+
involves: 129S2/SvPas * C57BL/6NSlc MGI:5614424
cn61
Emx1tm1(cre)Krj/Emx1+
Lhx2tm1.1Ddmo/Lhx2tm1.1Ddmo
involves: 129S2/SvPas * C57BL/6 * SJL MGI:4399057
cn62
Emx1tm1(cre)Krj/Emx1+
Esco2tm1.1Ge/Esco2tm1.1Ge
involves: 129S2/SvPas * C57BL/6 * SJL MGI:5308068
cn63
Emx1tm1(cre)Krj/Emx1+
Lhx2tm1.1Ddmo/Lhx2tm1.2Ddmo
involves: 129S2/SvPas * C57BL/6 * SJL MGI:4399056
cn64
Cdh2tm1Glr/Cdh2tm1Glr
Emx1tm1(cre)Krj/Emx1+
involves: 129S6/SvEvTac * C57BL/6 MGI:5607288
cn65
Emx1tm1(cre)Krj/Emx1+
Gsx2tm2.1Kc/Gsx2tm2.1Kc
Tg(CAG-cat,-EGFP)1Rbns/0
involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL MGI:4412088
cn66
Emx1tm1(cre)Krj/Emx1+
Gsx2tm2.1Kc/Gsx2tm2.1Kc
involves: 129S6/SvEvTac * C57BL/6 * SJL MGI:4412086
cn67
Tsc2tm1.1Kcess/Tsc2tm1.1Kcess
Emx1tm1(cre)Krj/Emx1+
involves: 129S/Sv * C57BL/6J MGI:5496787
cn68
Gm30731tm1.1Dalm/Gm30731tm1.1Dalm
Emx1tm1(cre)Krj/Emx1+
involves: 129S/SvEv * 129S2/SvPas * C57BL/6 MGI:6385155
cn69
Bhlhe22tm2.1Meg/Bhlhe22tm2.1Meg
Emx1tm1(cre)Krj/Emx1+
involves: 129/Sv * 129S2/SvPas MGI:4440904
cn70
Emx1tm1(cre)Krj/Emx1+
Magohtm1c(KOMP)Dlsi/Magoh+
involves: BALB/cJ * C57BL/6J MGI:6382138
cn71
Bicd2tm1Hgrd/Bicd2tm1Hgrd
Emx1tm1(cre)Krj/Emx1+
involves: C57BL/6 MGI:5810138
cn72
Emx1tm1(cre)Krj/Emx1+
Rbm8atm1Dlsi/Rbm8a+
involves: C57BL/6J MGI:5803996


Genotype
MGI:2684615
hm1
Allelic
Composition
Emx1tm1(cre)Krj/Emx1tm1(cre)Krj
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• homozygous mice do not show any of the abnormal phenotypes shown for Emx1tm1Jlr homozygotes




Genotype
MGI:6095197
cn2
Allelic
Composition
Emx1tm1(cre)Krj/Emx1+
Ptpn11tm6Bgn/Ptpn11+
Genetic
Background
B6.129S-Ptpn11tm6Bgn Emx1tm1(cre)Krj
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Ptpn11tm6Bgn mutation (2 available); any Ptpn11 mutation (35 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• during auditory cued retrieval, mice show a reduced ability to discriminate conditional stimuli of 10-kHZ, 10 seconds with 20 seconds inter stimulus intervals (CS+) and conditional stimuli of 2.5-kHz, 10 seconds with 20 seconds inter stimulus intervals (CS-), with response to CS+ slightly reduced and to CS- somewhat increased
• however, mice exhibit normal levels of contextual fear memory
• mice exhibit reduced exploratory behavior in the open field task, with a shorter run distance than controls
• in the Morris water maze, mice show a reduced path length during training and lower average speed resulting in similar escape latencies as controls, and reduced total distance traveled during probe trial 1, indicating reduced memory specificity

nervous system
• surface expression and trafficking of synaptic glutamate receptors is altered in hippocampal neurons, indicating possible hippocampal neuronal plasticity defects
• however, axonal outgrowth and dendritic arborization in cultured hippocampal neurons is similar to controls and synaptogenesis appears normal

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Noonan syndrome 1 DOID:0060578 OMIM:163950
J:242312




Genotype
MGI:5469863
cn3
Allelic
Composition
Slc17a6tm1.1Jder/Slc17a6tm1.1Jder
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
B6.Cg-Emx1tm1(cre)Krj Slc17a6tm1.1Jder
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Slc17a6tm1.1Jder mutation (0 available); any Slc17a6 mutation (46 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• adult CA1 hippocampal pyramidal neurons exhibit reduced dendritic arbor and reduced number of spines compared with control mice
• reduced number of spines in adult CA1 hippocampal pyramidal neurons exhibit
• increased paired-pulse ratio with decreased evoked release probability in young CA3-CA1 connections
• young mice exhibit reduced evoked synaptic glutamatergic transmission in CA3-CA1 connections compared with control mice
• in young CA3-CA1 connections
• decreased evoked glutamate release probability

behavior/neurological
• impaired spatial learning and memory in a Morris water maze
• however, treatment with D-Serine and D-amino acid oxidase inhibition enhances learning
• impaired spatial learning and memory in a Morris water maze

growth/size/body
• at P14 without a decrease in body weight




Genotype
MGI:6285755
cn4
Allelic
Composition
Glultm1.1Ncd/Glultm1.1Ncd
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
B6.Cg-Glultm1.1Ncd Emx1tm1(cre)Krj
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Glultm1.1Ncd mutation (0 available); any Glul mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• increase in mortality after 3 weeks of age, with the highest mortality between 4 and 9 weeks and a survival ratio of about 70% at 9 weeks of age

behavior/neurological
• fewer fecal boli are produced by mice during open field test sessions, suggesting reduced anxiety
• 4-15 week old mice show alterations in locomotive activities in the open field test, with some mice being almost inactive while others show hypoactivity interrupted by bursts of sudden wild running
• mice begin to exhibit periodic running fits when subjected to mild stimulation such as removing the cage lid or gentle knocking on the cate at postnatal week 3
• mice begin to exhibit hypoactivity at when subjected to mild stimulation such as removing the cage lid or gentle knocking on the cate at postnatal week 3
• mice older than 6 weeks show facial automatisms with occasional falling and forelimb clonus, suggesting seizures
• intracranial EEG recordings of 4-28 week old mice indicate spontaneous recurrent seizures in 4 of 7 mice
• frequency, duration, and behavioral severity of seizures varies among mice, with a tendency of more frequent seizures with age, indicating the development of late-onset epileptic seizures

cardiovascular system
• blood vessels become dilated in the areas of the neocortex and of the hippocampus where neurodegeneration occurs
• MRI cerebrovascular reactivity (the relative increase in blood oxygen level dependent signal during a carbon dioxide challenge) is reduced in neocortical areas in both 4 week and 12-15 week old mice indicating that cerebral blood vessels exhibit reduced ability to react to increases in carbon dioxide levels
• MRI cerebrovascular reactivity is reduced in the dorsal hippocampus at 4 weeks but not 12-15 weeks of age

homeostasis/metabolism
• concentration of aspartate is lower in the cerebral cortex
• however, levels are normal in the cerebellum
• concentration of GABA is lower in the cerebral cortex
• however, levels are normal in the cerebellum
• concentration of glutamate is lower in the cerebral cortex
• however, levels are normal in the cerebellum
• concentration of glutamine are lower in the cerebral cortex
• however, levels are normal in the cerebellum

nervous system
• mice older than 6 weeks show facial automatisms with occasional falling and forelimb clonus, suggesting seizures
• intracranial EEG recordings of 4-28 week old mice indicate spontaneous recurrent seizures in 4 of 7 mice
• frequency, duration, and behavioral severity of seizures varies among mice, with a tendency of more frequent seizures with age, indicating the development of late-onset epileptic seizures
• blood vessels become dilated in the areas of the neocortex and of the hippocampus where neurodegeneration occurs
• with age, mice show selective degeneration of CA1 and CA3 pyramidal neurons
• mice exhibit progressive astrogliosis with a significant increase at 4 weeks of age, prior to neuronal loss and epilepsy
• astrogliosis is first noted in astrocytes along cerebral blood vessels
• some mice show occasional focal lesions (small islands of neuronal loss) in the neocortex at 6 weeks of age
• with age, mice show selective degeneration of CA1 and CA3 pyramidal neurons and dentate granule cells which is apparent by 3 months of age
• the neocortex becomes progressively affected in multiple areas with age, particularly the retrosplenial, motor, somatosensory, parietal association and visual cortices, with neocortical neurodegeneration generally starting in the most superficial layer of the cortex

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
temporal lobe epilepsy DOID:3328 J:272643




Genotype
MGI:5695285
cn5
Allelic
Composition
Magohtm1c(KOMP)Dlsi/Magoh+
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
B6.Cg-Magohtm1c(KOMP)Dlsi Emx1tm1(cre)Krj
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Magohtm1c(KOMP)Dlsi mutation (0 available); any Magoh mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• at P12, mutant mice exhibit significantly smaller brains than heterozygous Emx1tm1(cre)Krj control mice
• at E16.5, cortical thickness is significantly reduced relative to wild-type controls, but thicker than in mice heterozygous for the MagohMos2 allele (likely due to a contribution of ventrally derived neurons which migrate into the dorsal telencephalon, but are not targeted by Emx1-Cre)




Genotype
MGI:5817664
cn6
Allelic
Composition
Emx1tm1(cre)Krj/?
Rai1tm2.1Luo/Rai1tm2.1Luo
Genetic
Background
either: (involves: 129S1/Sv * 129S2/SvPas * C57BL/6) or (involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Rai1tm2.1Luo mutation (1 available); any Rai1 mutation (61 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• mice do not exhibit differences in behavior, motor function or body weight from controls




Genotype
MGI:5002699
cn7
Allelic
Composition
Pdcd10tm1Wami/Pdcd10tm1Wami
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129 * 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Pdcd10tm1Wami mutation (0 available); any Pdcd10 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• mice exhibit normal survival to adulthood

nervous system
• 80% of mice 7 months or older develop vascular lesions in the forebrain unlike control mice
• starting in early postnatal stages

neoplasm
• 80% of mice 7 months or older develop vascular lesions in the forebrain unlike control mice

cardiovascular system
• 80% of mice 7 months or older develop vascular lesions in the forebrain unlike control mice




Genotype
MGI:6194753
cn8
Allelic
Composition
Celf4tm1.1Frk/Celf4tm1.1Frk
Emx1tm1(cre)Krj/?
Genetic
Background
involves: 129 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Celf4tm1.1Frk mutation (2 available); any Celf4 mutation (18 available)
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• seizure threshold measured by ECT test in this conditional null shows an increase in both males and females

nervous system
• seizure threshold measured by ECT test in this conditional null shows an increase in both males and females




Genotype
MGI:3835560
cn9
Allelic
Composition
Nrg1tm1Fej/Nrg1tm1Fej
Emx1tm1(cre)Krj/?
Genetic
Background
involves: 129P2/OlaHsd * 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Nrg1tm1Fej mutation (0 available); any Nrg1 mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• forebrain fully myelinated at 4 months of age
• no morphological or biochemical differences from wild-type controls




Genotype
MGI:3795740
cn10
Allelic
Composition
Celsr3tm1Agof/Celsr3tm2Agof
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129P2/OlaHsd * 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Celsr3tm1Agof mutation (0 available); any Celsr3 mutation (67 available)
Celsr3tm2Agof mutation (0 available); any Celsr3 mutation (67 available)
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• only diminutive bundles originating from the olfactory nuclei run caudally and turn but never cross the midline unlike in control mice (double heterozygotes)
• subdural projections develop abnormally
• however, corticothalamic and thalamicortical axons are normal




Genotype
MGI:5605975
cn11
Allelic
Composition
Tor1atm1Wtd/Tor1atm3.1Wtd
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S1/Sv * 129S2/SvPas * 129S6/SvEvTac * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Tor1atm1Wtd mutation (1 available); any Tor1a mutation (16 available)
Tor1atm3.1Wtd mutation (1 available); any Tor1a mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• a subset of mice exhibit limb clasping during tail suspension
• mice exhibit an increase in the number of footslip/cross in beam crossing

nervous system
• reduction in cortical thickness
• however, the number of CUX1+ (cortical layer II-IV) or CTIP2+ (cortical layer V-VI) cortical neurons is not altered
• reactive gliosis is observed in corpus callosum
• observed in cortex




Genotype
MGI:6710956
cn12
Allelic
Composition
Tor1atm2Wtd/Tor1atm3.1Wtd
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S1/Sv * 129S2/SvPas * 129S6/SvEvTac * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Tor1atm2Wtd mutation (1 available); any Tor1a mutation (16 available)
Tor1atm3.1Wtd mutation (1 available); any Tor1a mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• cortical thickness is normal and mice have normal numbers of CUX1+ (cortical layer II-IV) and CTIP2+ (cortical layer V-VI) cells




Genotype
MGI:6710955
cn13
Allelic
Composition
Tor1atm1Wtd/Tor1atm3.1Wtd
Tor1btm1Wtd/Tor1btm1.1Wtd
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S1/Sv * 129S2/SvPas * 129S6/SvEvTac * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Tor1atm1Wtd mutation (1 available); any Tor1a mutation (16 available)
Tor1atm3.1Wtd mutation (1 available); any Tor1a mutation (16 available)
Tor1btm1.1Wtd mutation (0 available); any Tor1b mutation (15 available)
Tor1btm1Wtd mutation (0 available); any Tor1b mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice exhibit early lethality beginning in the third postnatal week and endpoint of survival is P28

growth/size/body
• mice show reduced postnatal growth

nervous system
• cerebral cortex is thinner at P28, with a 64.8% reduction compared to 10.4% reduction in single conditional Tor1a homozygous mutant mice
• mice exhibit reductions of CUX1+ (cortical layer II-IV) and CTIP2+ (cortical layer V-VI) cortical neurons in sensorimotor cortex
• however, no overt brain structural abnormalities are seen at birth, cortical thickness is normal at birth, and the number of CTIP2+ (cortical layer V-VI) cortical neurons are not different at P0
• mice exhibit gliosis in the cerebral cortex and hippocampus at P28
• mice exhibit cell loss in the cerebral cortex and hippocampus at P28




Genotype
MGI:6710960
cn14
Allelic
Composition
Tor1atm2Wtd/Tor1atm3.1Wtd
Tor1btm1Wtd/Tor1b+
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S1/Sv * 129S2/SvPas * 129S6/SvEvTac * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Tor1atm2Wtd mutation (1 available); any Tor1a mutation (16 available)
Tor1atm3.1Wtd mutation (1 available); any Tor1a mutation (16 available)
Tor1btm1Wtd mutation (0 available); any Tor1b mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mice show increased limb clasping in the tail suspension test

nervous system
• cortical thickness is reduced
• however, CUX1+ (cortical layer II-IV) and CTIP2+ (cortical layer V-VI) cortical neuron counts are normal




Genotype
MGI:6710961
cn15
Allelic
Composition
Tor1atm2Wtd/Tor1atm3.1Wtd
Tor1btm1Wtd/Tor1btm1Wtd
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S1/Sv * 129S2/SvPas * 129S6/SvEvTac * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Tor1atm2Wtd mutation (1 available); any Tor1a mutation (16 available)
Tor1atm3.1Wtd mutation (1 available); any Tor1a mutation (16 available)
Tor1btm1Wtd mutation (0 available); any Tor1b mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• cortical thickness is normal at birth but is dramatically reduced by P28, with mice showing a nonsignificant reduction of CUX1+ (cortical layer II-IV) cortical neurons and a significant reduction of CTIP2+ (cortical layer V-VI) cortical neurons at P28




Genotype
MGI:4459298
cn16
Allelic
Composition
Pals1tm1Caw/Pals1tm1Caw
Tsc2tm1.1Mjg/Tsc2tm1.1Mjg
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Pals1tm1Caw mutation (0 available); any Pals1 mutation (26 available)
Tsc2tm1.1Mjg mutation (1 available); any Tsc2 mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• the medial cortex is partially restored compared to in Mpp5tm1Caw/Mpp5tm1Caw Emx1tm1(cre)Krj/Emx1+ mice




Genotype
MGI:4430220
cn17
Allelic
Composition
Celsr1tm1Fati/Celsr1tm1Fati
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Celsr1tm1Fati mutation (0 available); any Celsr1 mutation (68 available)
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
integument
• a rosette-like pattern is seen on limbs, but no whorls develop on the body




Genotype
MGI:5538342
cn18
Allelic
Composition
Slc12a2tm1.1Jheb/Slc12a2tm1.1Jheb
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Slc12a2tm1.1Jheb mutation (0 available); any Slc12a2 mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
N
• no behavioral abnormalities are detected




Genotype
MGI:5504444
cn19
Allelic
Composition
Pax6tm2Pgr/Pax6tm2Pgr
Smarcc2tm1.1Stoy/Smarcc2tm1.1Stoy
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S1/Sv * 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Pax6tm2Pgr mutation (1 available); any Pax6 mutation (73 available)
Smarcc2tm1.1Stoy mutation (0 available); any Smarcc2 mutation (40 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• decreased cortical surface at P8
• reduced of Cux1+ upper layer identity neurons
• decreased Tbr2+ cells in E14.5 dorsal cortex




Genotype
MGI:5795755
cn20
Allelic
Composition
Pnkptm1.1Pmc/Pnkptm1.1Pmc
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S1/Sv * 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Pnkptm1.1Pmc mutation (0 available); any Pnkp mutation (31 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• loss of all dorsal telencephalic progenitors via apoptosis
• proliferation in the cortex is reduced by E15.5 compared with E13.5

growth/size/body
• body size is reduced at P5

nervous system
• loss of all dorsal telencephalic progenitors via apoptosis
• brain size is reduced at P5
• almost complete absence of the cortex




Genotype
MGI:5504443
cn21
Allelic
Composition
Pax6tm2Pgr/Pax6tm2Pgr
Smarcc2tm1.1Stoy/Smarcc2+
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S1/Sv * 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Pax6tm2Pgr mutation (1 available); any Pax6 mutation (73 available)
Smarcc2tm1.1Stoy mutation (0 available); any Smarcc2 mutation (40 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• mice exhibit normal cortical surface at P8 and numbers of Tbr2+ intermediate progenitors at E14.5
• mice exhibit increased production of Cux1+ upper layer identity neurons




Genotype
MGI:5504445
cn22
Allelic
Composition
Smarcc2tm1.1Stoy/Smarcc2tm1.1Stoy
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S1/Sv * 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Smarcc2tm1.1Stoy mutation (0 available); any Smarcc2 mutation (40 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• increase in indirect neurogenesis
• however, neuron migration and apoptosis are normal
• radial glial progenitors are biased to asymmetric nonneurogenic divisions and the production of intermediate progenitors instead of neurons
• however, proliferative capacity of intermediate progenitors is normal
• increased volume, surface area, anterior-posterior dimension and dorsoventral dimension
• in the rostral, intermediate and caudal areas
• twice as many nonapical pHH3+ (mitotic marker) cells in the cortex at E14.5
• increased Tbr2+ cells in the subventricular zone at E12.5 with progressive increase between E13.5 and E15.5

cellular
• increase in indirect neurogenesis
• however, neuron migration and apoptosis are normal
• radial glial progenitors are biased to asymmetric nonneurogenic divisions and the production of intermediate progenitors instead of neurons
• however, proliferative capacity of intermediate progenitors is normal
• decreased CpG methylation on Cux1 and Tie1 promoters




Genotype
MGI:5471312
cn23
Allelic
Composition
Sp2tm1.1Htg/Sp2tm1.1Htg
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Sp2tm1.1Htg mutation (0 available); any Sp2 mutation (145 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• fewer than expected mice are recovered at birth

nervous system
• severely disrupted neuronal and glial differentiation
• increased density at E14.5

cellular
• severely disrupted neuronal and glial differentiation




Genotype
MGI:4947981
cn24
Allelic
Composition
Orc3tm1.1Zhua/Orc3tm1.1Zhua
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Orc3tm1.1Zhua mutation (0 available); any Orc3 mutation (30 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• mice exhibit normal number of Cajal-Retzius cells
• mice exhibit normal cortical basement membrane
• at E14.5, mice exhibit severe disruption in the radial glial scaffold compared with wild-type mice
• at E14.5, mice exhibit severe loss of radial glial cells compared with wild-type mice
• at E13.5, mice exhibit reduced neural progenitor division, especially near the ventricular surface, compared with wild-type mice

cellular
• at E14.5, mice exhibit severe disruption in the radial glial scaffold compared with wild-type mice
• at E14.5, mice exhibit severe loss of radial glial cells compared with wild-type mice
• at E13.5, mice exhibit reduced neural progenitor division, especially near the ventricular surface, compared with wild-type mice




Genotype
MGI:4459297
cn25
Allelic
Composition
Pals1tm1Caw/Pals1+
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Pals1tm1Caw mutation (0 available); any Pals1 mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• mice exhibit an intermediate phenotype compared with homozygous mice
• mice exhibit an intermediate phenotype compared with homozygous mice
• mice exhibit a small medial cerebral cortex compared with wild-type mice
• however, the lateral cortex is relatively spared

behavior/neurological
• mice exhibit an intermediate behavioral phenotype compared with homozygous mice

cellular
• mice exhibit an intermediate phenotype compared with homozygous mice
• mice exhibit an intermediate phenotype compared with homozygous mice




Genotype
MGI:4459295
cn26
Allelic
Composition
Pals1tm1Caw/Pals1tm1Caw
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Pals1tm1Caw mutation (0 available); any Pals1 mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• mice exhibit normal survival

reproductive system
N
• mice exhibit normal reproduction

nervous system
• apoptosis in the cortex is increased beginning at E10.5 and peaks at E11 to E12 compared to in wild-type mice
• at E11 and E12, the number of postmitotic neurons is increased compared to in wild-type mice
• at E12, neuronal progenitor cells withdraw from the cell cycle 2.3-fold quicker than wild-type cells
• at E12 and E14, BrdU incorporation in neuronal progenitor cells is 2-fold less than in wild-type mice
• at E12.5 and E14.5, M-phase cell phospho-histone H3 labeling of neuronal progenitor cells is decreased compared to in wild-type mice
• mice exhibit fluid-filled cystic space contiguous with the lateral ventricle not observed in wild-type mice
• the cerebral cortex is virtually absent compared to in wild-type mice
• at E12 and E14, cortical size and morphology is abnormal compared to in wild-type mice
• in the lateral cortex

behavior/neurological
N
• mice exhibit normal reflexes and motor coordination
• initiation of exploration in an open field is decreased compared to wild-type mice
• mice fail to locate a visible platform in a Morris water maze unlike wild-type mice
• mice fail the visual forepaw reach test unlike wild-type mice
• mice perform poorly in a wire hang test compared with wild-type mice
• in an open field
• mice exhibit irregular and jumpy movements that disrupt their stride and gait unlike wild-type mice

growth/size/body

integument

cellular
• apoptosis in the cortex is increased beginning at E10.5 and peaks at E11 to E12 compared to in wild-type mice
• at E11 and E12, the number of postmitotic neurons is increased compared to in wild-type mice
• at E12, neuronal progenitor cells withdraw from the cell cycle 2.3-fold quicker than wild-type cells
• at E12 and E14, BrdU incorporation in neuronal progenitor cells is 2-fold less than in wild-type mice
• at E12.5 and E14.5, M-phase cell phospho-histone H3 labeling of neuronal progenitor cells is decreased compared to in wild-type mice




Genotype
MGI:4442996
cn27
Allelic
Composition
Dact1tm1.1Bnrc/Dact1tm1.2Bnrc
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dact1tm1.1Bnrc mutation (0 available); any Dact1 mutation (13 available)
Dact1tm1.2Bnrc mutation (1 available); any Dact1 mutation (13 available)
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• mice exhibit normal cellular organization and regional anatomy of the brain
• cultured hippocampal neurons exhibit reduced dendritic spine density, spine length, and spine head width compared with wild-type neurons




Genotype
MGI:5504448
cn28
Allelic
Composition
Emx1tm1(cre)Krj/Emx1+
Tg(CMV-GFP,-Smarcc2,-lacZ)#Stoy/0
Genetic
Background
involves: 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Tg(CMV-GFP,-Smarcc2,-lacZ)#Stoy mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• direct increase in neurogenesis
• decreased volume, surface area, anterior-posterior dimension and dorsoventral dimension
• thin cerebral cortex in the rostral, intermediate and caudal areas
• at P10, radial thickness is reduced that more severely affects the width of the upper layers and a slight increase in neuronal density at L6 compared with control mice
• increase number of Tuj1+ neurons in the early cortical plate with subsequent decrease at E14.5 to E15.5
• decreased Tbr2+ intermediate progenitor cells at E12.5 to E13

cellular
• direct increase in neurogenesis
• increased CpG methylation on Cux1 and Tie1 promoters




Genotype
MGI:3616432
cn29
Allelic
Composition
Emx1tm1(cre)Krj/Emx1+
Wnt3atm2Eag/Wnt3a+
Genetic
Background
involves: 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Wnt3atm2Eag mutation (0 available); any Wnt3a mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die shortly after birth

craniofacial
• lower jaw is shorter than normal

nervous system
• at E12.5, the neocortical zone shows a near complete absence of Cajal-Retzius cells
• at !3.5 and 15.5. the band of Cajal-Retzius cells along the marginal zone of the cortex is absent
• at E12.5, the choroid plexus is almost completely absent
• at E10, the cortical hem is almost completely ablated
• the caudomedial cortex is highly disorganized and shrunken; however, at E18.5, the layers of the rostral cortex are correctly ordered

skeleton
• lower jaw is shorter than normal

behavior/neurological
• newborn mice are unable to suckle




Genotype
MGI:5302860
cn30
Allelic
Composition
Pomt2tm1.1Hhu/Pomt2tm1.1Hhu
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S2/SvPas * 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Pomt2tm1.1Hhu mutation (1 available); any Pomt2 mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• radial glial cells are disrupted during neocortical development
• radial glial cell processes extend beyond the disruptions of the pial basement membrane
• mice exhibit lamination defects with an indistinct layer I unlike in wild-type mice
• the two cerebral hemispheres are fused
• layers II/III, IV, V, and VI cannot be identified
• Cajal-Retzius cells are disrupted during neocortical development
• unlike in wild-type mice, Cajal-Retzius cells are located between the diffuse cell zone and the cortical plate
• in some regions Cajal-Retzius cells are absent in some regions
• 2 mice exhibit lamination defects of pyramidal cells in all CA fields of the Ammon's horn with some pyramidal neurons displaced
• 10 of 13 mice exhibit dispersion of CA3 of the Ammon's horn with CA3 cells
• wavy inferior blade
• mice exhibit ectopic fibroblasts in the upper half of the neocortex
• in the upper half of the neocortex

cellular
• radial glial cells are disrupted during neocortical development
• radial glial cell processes extend beyond the disruptions of the pial basement membrane
• the pial basement membrane and glia limitans are disrupted during development and in adult mice compared to in wild-type mice




Genotype
MGI:6358251
cn31
Allelic
Composition
Knl1tm1c(EUCOMM)Hmgu/Knl1tm1c(EUCOMM)Hmgu
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S2/SvPas * 129S4/SvJaeSor * C57BL/6N
Cell Lines HEPD0665_2_E05
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Knl1tm1c(EUCOMM)Hmgu mutation (0 available); any Knl1 mutation (65 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• in deep and upper layers

growth/size/body
• more severe than in mice with the conditional activated by Tg(GFAP-cre)25Mes




Genotype
MGI:6192624
cn32
Allelic
Composition
Rem2tm1c(EUCOMM)Hmgu/Rem2tm1c(EUCOMM)Hmgu
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S2/SvPas * 129S4/SvJaeSor * C57BL/6N
Cell Lines HEPD0760_4_D07
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Rem2tm1c(EUCOMM)Hmgu mutation (0 available); any Rem2 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• mice subjected to monocular deprivation exhibit reduced ocular dominance plasticity measured by optical imaging of intrinsic signals compared with control mice but to a lesser extent than in knock-out mice




Genotype
MGI:5470140
cn33
Allelic
Composition
Zfp335tm1.1Caw/Zfp335tm1.1Caw
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Zfp335tm1.1Caw mutation (1 available); any Zfp335 mutation (46 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• absent cortex lacking cortical neurons




Genotype
MGI:5470141
cn34
Allelic
Composition
Zfp335tm1.1Caw/Zfp335+
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Zfp335tm1.1Caw mutation (1 available); any Zfp335 mutation (46 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• modest reduction in size




Genotype
MGI:5315767
cn35
Allelic
Composition
Bhlhe22tm2.1Meg/Bhlhe22tm2.1Meg
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bhlhe22tm2.1Meg mutation (0 available); any Bhlhe22 mutation (8 available)
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• mice exhibit a reduction of the corticospinal tract compared with wild-type mice




Genotype
MGI:5569795
cn36
Allelic
Composition
Islr2tm1.1Ddg/Islr2tm2.1Ddg
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Islr2tm1.1Ddg mutation (1 available); any Islr2 mutation (20 available)
Islr2tm2.1Ddg mutation (1 available); any Islr2 mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• some mice die during the fourth postnatal week

nervous system
• hypoplastic thalamocortical projections
• few, if any, corticofugal and thalamocortical axons cross the pallial-subpallial boundary
• however, thalamocortical projections extension through the diencephalic-telencephalic boundary is normal
• at P7, pallium and subpallium are almost completely disconnected
• the main trunk is devoid of corticofugal axons




Genotype
MGI:5614429
cn37
Allelic
Composition
Epha4tm1.1Bzh/Epha4tm1.2Bzh
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S2/SvPas * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Epha4tm1.1Bzh mutation (1 available); any Epha4 mutation (54 available)
Epha4tm1.2Bzh mutation (0 available); any Epha4 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
N
• unlike in germ line null mice, the gait is similar to that in wild-type mice

nervous system
• increased midline re-crossing of axons dorsal to the central canal in both the cervical enlargement and lumbar spinal cord




Genotype
MGI:6275610
cn38
Allelic
Composition
Atxn1tm2Hzo/Atxn1tm2Hzo
Atxn1ltm2Hzo/Atxn1ltm2Hzo
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S2/SvPas * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atxn1ltm2Hzo mutation (1 available); any Atxn1l mutation (16 available)
Atxn1tm2Hzo mutation (1 available); any Atxn1 mutation (29 available)
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• in a fear conditioning assay, mice exhibit reduced freezing, especially in the test of spatial context, indicating impaired learning and memory
• however, mice show normal social behavior in the three-chamber test
• in the elevated plus-maze test, mice spend more time in the open arm and less in the closed arm, indicating reduced anxiety
• mice cover a greater distance at a greater speed in the open-field test

nervous system
• the hippocampal dentate gyrus shows decreased thickness at 20 weeks of age, however the CA1 and CA3 regions are normal
• the number of CUX1+ neurons in layers 2-4 is reduced
• however, the corpus callosum appears normal
• mice show reduced thickness of cortical layers 2-4 at 5 and 20 weeks of age, whereas thickness of layers 5 and 6 remains normal

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
disease of mental health DOID:150 J:240674




Genotype
MGI:4947982
cn39
Allelic
Composition
Itgb1tm1Mll/Itgb1tm1Mll
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S2/SvPas * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Itgb1tm1Mll mutation (1 available); any Itgb1 mutation (42 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• radial glia processes in the cortical plate are wavy and frequently crisscross unlike in wild-type mice
• radial glia scaffold is disrupted prior to Cajal-Retzius displacement unlike in wild-type mice
• however, mice exhibit normal radial glia density and identity
• at E14.5, mice exhibit retraction of radial glia endfeet compared with wild-type mice
• at E15.0, radial glia endfoot retraction is more severe and spreads across the cortex unlike in wild-type mice
• Cajal-Retzius cells are displaced deeper into the cortex than in wild-type mice

cellular
• radial glia processes in the cortical plate are wavy and frequently crisscross unlike in wild-type mice
• radial glia scaffold is disrupted prior to Cajal-Retzius displacement unlike in wild-type mice
• however, mice exhibit normal radial glia density and identity
• at E14.5, mice exhibit retraction of radial glia endfeet compared with wild-type mice
• at E15.0, radial glia endfoot retraction is more severe and spreads across the cortex unlike in wild-type mice




Genotype
MGI:6393904
cn40
Allelic
Composition
Rnu11tm1.1Rank/Rnu11tm1.1Rank
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S2/SvPas * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Rnu11tm1.1Rank mutation (0 available); any Rnu11 mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• significantly reduced number of RGCs in pallium of E13 and E14 embryos
• normal number of RGCs in pallium of E12 embryos
• significantly thinner than wildtype in E14 embryos
• normal thickness in E13 embryos
• significantly reduced number of proliferating NPCs in pallium of E13 and E14 embryos
• significantly reduced number of intermediate progenitor cells (IPCs) in pallium of E13 and E14 embryos
• significantly reduced number of RGCs in pallium of E13 and E14 embryos
• normal number of proliferating NPCs in pallium of E12 embryos
• normal number of IPCs in pallium of E12 embryos
• normal number of RGCs in pallium of E12 embryos
• significantly reduced number of neurons in pallium of E14 embryos
• normal number of neurons in pallium of E12 and E13 embryos

cellular
• in pallium of E12-14 embryos
• significantly reduced number of RGCs in pallium of E13 and E14 embryos
• normal number of RGCs in pallium of E12 embryos

growth/size/body
• owing to decrease in number of neuronal progenitor cells




Genotype
MGI:3582334
cn41
Allelic
Composition
Emx1tm1(cre)Krj/Emx1+
Numbtm1Ynj/Numbtm1Ynj
Genetic
Background
involves: 129S2/SvPas * 129X1/SvJ * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Numbtm1Ynj mutation (0 available); any Numb mutation (51 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• viable and fertile with no detectable phenotypes




Genotype
MGI:3582335
cn42
Allelic
Composition
Emx1tm1(cre)Krj/Emx1+
Numbtm1Ynj/Numbtm1Ynj
Numbltm1Wmz/Numbltm1Wmz
Genetic
Background
involves: 129S2/SvPas * 129X1/SvJ * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Numbltm1Wmz mutation (0 available); any Numbl mutation (27 available)
Numbtm1Ynj mutation (0 available); any Numb mutation (51 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• animals that were small tended to die between P5 and P21

behavior/neurological
• mutants that survived to adulthood appeared jittery
• 25% of the mutants displayed circling behavior
• mutants that survived to adulthood appeared to have normal life span but were solitary
• mutants that survived to adulthood exhibited sporadic seizures

growth/size/body
• most mutant mice were slightly smaller than controls but were within the normal range of sizes and survived to adulthood
• occasionally, they reached only about one-third the size of their littermates

nervous system
• mutants that survived to adulthood exhibited sporadic seizures
• TUNEL staining of E14.5 embryonic brain sections suggest that increased cell death may contribute to the loss of mature neurons
• several experiments indicate that neural progenitor cell proliferation increased drastically in the mutant region
• starting from E10.5, Nestin-positive progenitor cells in the mutant showed very little radial organization
• mutant neural progenitor cells were organized into multiple clusters of neurogenic foci across the cortex and did not migrate to the outer layer of the cortex
• by E10.5, the neuroepithelium in the dorsal forebrain was noticeably undulating
• rough ventricular surfaces in mutant brains are suggestive of the shedding of brain tissues into the ventricle; shed tissues were occasionally found in the lateral ventricles
• extensive ventricular enlargement
• by E10.5, the neuroepithelium in the dorsal forebrain was noticeably undulating
• at E12.5, the forebrain exhibited undulating, folding, and invaginating with clumps of cells peeling into the lateral ventricle from the apical surface of the cortical ventricular zone
• marginal zone absent and displayed no discernible laminar structures
• contained numerous cell clusters
• shed tissues were occasionally found in the lateral ventricles
• no identifiable corpus callosum in the caudodorsal region while corpus callosum in the rostral region was relatively normal
• small thalamus
• overgrown caudodorsal neocortex and thinning of the lateral cortex
• in extreme cases, the caudodorsal region was nearly missing, with just a thin layer of the cortex remaining with extreme ventricular enlargement
• the volume of the mutant cortex was increased
• reduction in the number of mature neurons later in the double mutant animal was revealed by reduced expression of neuronal markers
• multidendritic neurons, normally located in layer I, were distributed all over the mutant cortex
• Cajal-Retzius cells were displaced from the normal location in the outer layer of the neocortex to the ectopic sites across the cortex

reproductive system

hearing/vestibular/ear
• 25% of the mutants displayed hypersensitivity to sound stimuli

embryo
• by E10.5, the neuroepithelium in the dorsal forebrain was noticeably undulating

cellular
• TUNEL staining of E14.5 embryonic brain sections suggest that increased cell death may contribute to the loss of mature neurons
• several experiments indicate that neural progenitor cell proliferation increased drastically in the mutant region
• starting from E10.5, Nestin-positive progenitor cells in the mutant showed very little radial organization
• mutant neural progenitor cells were organized into multiple clusters of neurogenic foci across the cortex and did not migrate to the outer layer of the cortex




Genotype
MGI:6331079
cn43
Allelic
Composition
Pik3r4mbe/Pik3r4tm1.1Mpnd
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S2/SvPas * C3H/HeH * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Pik3r4mbe mutation (0 available); any Pik3r4 mutation (43 available)
Pik3r4tm1.1Mpnd mutation (1 available); any Pik3r4 mutation (43 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• pyramidal cell layer is fractured
• increase in the number of ectopic pyramidal cells in the stratum oriens layer
• the stratum oriens layer contains ectopic pyramidal cells




Genotype
MGI:5607738
cn44
Allelic
Composition
Emx1tm1(cre)Krj/?
Kcnq3tm1.1Avtz/Kcnq3tm1.1Avtz
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Kcnq3tm1.1Avtz mutation (1 available); any Kcnq3 mutation (42 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• hippocampal membrane fractions show reduced KCNQ2 protein levels by about 15% and KCNQ5 protein levels by about 20%
• mice show a substantial loss of the M current, however the medium afterhyperpolarization is normal
• CA1 pyramidal neurons tend to show a smaller afterdepolarization, likely due to faster repolarization time course of the afterdepolarization
• KCNQ allosteric activators still markedly dampen neuronal excitability in pyramidal neurons as in controls




Genotype
MGI:6331087
cn45
Allelic
Composition
Pik3r4tm1.1Mpnd/Pik3r4tm1.1Mpnd
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Pik3r4tm1.1Mpnd mutation (1 available); any Pik3r4 mutation (43 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• the hippocampus is barely discernible, with no structured pyramidal cell layer or dentate gyrus at P0 and P11
• the severe, progressive degeneration of the hippocampus is associated with caspase-induced apoptosis
• severe, progressive degeneration of the cortex that is associated with caspase-induced apoptosis
• reduction in cortical thickness at P0 that is more severe at P11




Genotype
MGI:3760657
cn46
Allelic
Composition
Emx1tm1(cre)Krj/Emx1+
Mycbp2tm1Adia/Mycbp2tm1Adia
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Mycbp2tm1Adia mutation (0 available); any Mycbp2 mutation (152 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• authors state that mice exhibit the same axonal guidance defects as observed in Phr1tm1.1Adia homozygotes
• mice exhibit a track running through the internal capsule and retrogradely labeled cell bodies in the thalamus that is not observed in Phr1tm1.1Adia homozygotes
• at E14.5 and E15.5, cortical axons fail to cross the corticostriatal boundary terminating in a bulb reminiscent of Probst bundle
• however, there is no delay in cortical axon outgrowth
• mice exhibit enlarged lateral ventricles
• collasal axons from the incipient visual cortex never cross into the corpus callosum as they do in wild-type mice, instead they extend anteriorly and medially to terminate in large bulbs known as Probst bundles
• descending corticofugal axons contribute to a thinner than normal corpus callosum
• however, corticofugal projections in the internal capsule do not contribute to the internal capsule
• mice exhibit narrower corpus callosum comapred to in wild-type mice
• hippocampal formations are reduced in size and dysmorphic compared to in wild-type mice

cellular
• authors state that mice exhibit the same axonal guidance defects as observed in Phr1tm1.1Adia homozygotes
• mice exhibit a track running through the internal capsule and retrogradely labeled cell bodies in the thalamus that is not observed in Phr1tm1.1Adia homozygotes
• at E14.5 and E15.5, cortical axons fail to cross the corticostriatal boundary terminating in a bulb reminiscent of Probst bundle
• however, there is no delay in cortical axon outgrowth




Genotype
MGI:5607737
cn47
Allelic
Composition
Emx1tm1(cre)Krj/?
Kcnq2tm1.1Avtz/Kcnq2tm1.1Avtz
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Kcnq2tm1.1Avtz mutation (1 available); any Kcnq2 mutation (32 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• all mice die before P40
• most mice die between P15 and P20

behavior/neurological
• tonic-clonic seizure followed by premature death was seen in one mouse and unusual behaviors such as rearing, jumping, and falling are seen in the others, consistent with seizures

nervous system
• tonic-clonic seizure followed by premature death was seen in one mouse and unusual behaviors such as rearing, jumping, and falling are seen in the others, consistent with seizures
• hippocampal membrane fractions show reduced KCNQ3 protein levels by about 60% and KCNQ5 protein levels by about 40%
• the M current is reduced by about 85%
• CA1 pyramidal neurons show a greater initial firing frequency and a greater final firing frequency, indicating elevated neuronal excitability
• CA1 pyramidal neurons show increased excitability seen as a more than 50% decreased medium afterhyperpolarization and a longer-lasting (2-fold increase) afterdepolarization
• pyramidal neurons fire first in bursts when the depolarization ramp surpasses spike threshold
• the threshold voltage for action potential generation is shifted to more depolarized membrane potentials, however, this is not accompanied by a decrease in action potential amplitude or in a decrease in the maximum rate of action potential activation
• pyramidal neurons are hyperexcitable, responding to current injections with an increased number and frequency of action potentials
• KCNQ allosteric activators, retigabine and ICA-27243, have only weak effects in pyramidal neurons compared to controls
• CA1 pyramidal neurons show a more than 50% reduction in medium afterhyperpolarization
• surface electrocorticography recordings of the cerebral cortex show episodes of polyspike events reaching to about 100 events within the first 15 min compared with hardly any events in controls
• polyspike events show multiple repetitive spikes typically followed by a wave of variable duration, indicating elevated cortical excitability




Genotype
MGI:6275604
cn48
Allelic
Composition
Cictm1c(KOMP)Wtsi/Cictm1c(KOMP)Wtsi
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S2/SvPas * C57BL/6 * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cictm1c(KOMP)Wtsi mutation (1 available); any Cic mutation (69 available)
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• in a fear conditioning assay, mice exhibit reduced freezing, especially in the test of spatial context, indicating impaired learning and memory
• however, mice show normal social behavior in the three-chamber test
• in the elevated plus-maze test, mice spend more time in the open arm and less in the closed arm, indicating reduced anxiety
• mice cover a greater distance at a greater speed in the open-field test
• mice treated with a low dose of amphetamine show reduced hyperactivity

nervous system
• the hippocampal dentate gyrus shows decreased thickness at 20 weeks of age, however the CA1 and CA3 regions are normal
• mice exhibit a transient increase of apoptosis in the upper layers of the cortex at P5 that is no longer seen at P10
• however, the corpus callosum appears normal
• the number of CUX1+ neurons in layers 2-4 is reduced at 5 weeks
• numbers of CUX1+ and SATB2+ neurons in layers 2-4 of the cortex are normal at P0 but decline postnatally and by P10 are comparable to that at 5 weeks
• the numbers of progenitors and their proliferation rates in embryonic cortex are not different from wild-type
• mice show reduced thickness of cortical layers 2-4 at 5 and 20 weeks of age, whereas thickness of layers 5 and 6 remains normal
• layer 2/3 pyramidal neurons show reduced dendritic branching complexity in 5 week old mice
• however, layer 5 pyramidal neurons show normal dendritic branching
• mice show a decrease in the probability of presynaptic neurotransmitter release
• however, basal synaptic transmission and long-term synaptic plasticity are normal

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
disease of mental health DOID:150 J:240674




Genotype
MGI:3584256
cn49
Allelic
Composition
Bdnftm1Krj/Bdnftm1Lfr
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S2/SvPas * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bdnftm1Krj mutation (1 available); any Bdnf mutation (32 available)
Bdnftm1Lfr mutation (1 available); any Bdnf mutation (32 available)
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

nervous system
• the cross-sectional area of medium spiny neuron soma is reduced by 25% and the diameter of all portions of the dendritic tree is reduced by about 40% compared to wild-type mice with spine density reduced by 30-40% at every order of dendrite
• the striatal volume is reduced by 15% at P14 and by 33% and P35 and P120
• hippocampal volume is reduced by 12% at 14 days of age however by 120 days of age no significant reduction in hippocampal volume is seen
• cortical volume is reduced by 16% at P14, by about 25% at P35, and by 30% at P120
• in layer II/III of the visual cortex soma area is normal at 2 weeks of age but reduced by 28% and 29% at 3 and 5 weeks of age, respectively; however the number of neurons is not significantly different compared to wild-type mice
• in layer II/III of the visual cortex basal dendrite branching is normal at 2 weeks of age, but reduced by 29% at 5 weeks of age with distal branches more severely affected than proximal branches
• in layer II/III of the visual cortex the number of primary dendrites is normal at 2 weeks of age but reduced by 19% and 36% at 3 and 5 weeks of age, respectively, compared to wild-type mice
• at 5 weeks of age the thickness of the somatosensory and visual cortex are reduced by 12% and 17%, respectively and a 22% increase in neuron density is seen in layer II/III of the visual cortex compared to wild-type mice

behavior/neurological
• all mutants display limb clasping by 120 days of age and clasping progresses with age from only hindlimbs to include hind and forlimbs; however no impairment od motor function is seen in the rotarod test

growth/size/body
• body weight is reduced at 3 and 5 weeks of age
• a 35% increase in body mass is seen at 16 weeks of age

reproductive system

vision/eye
• mutants open their eyes 1 day later




Genotype
MGI:5523193
cn50
Allelic
Composition
Nr2f1tm2.1Mist/Nr2f1tm2.1Mist
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S2/SvPas * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Nr2f1tm2.1Mist mutation (0 available); any Nr2f1 mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• subplate cells differentiate normally
• altered thalamocortical targeting
• massively expanded frontal areas, including motor
• altered areal output projections
• projection neurons in the parietal cortex adopt the identity of motor area-projection neurons rather than S1 identity
• the primary sensory areas (A1, S1 and V1) are reduced in size and positioned far caudally in the cortical hemisphere compared with wild-type mice
• primary sensory areas coarsely maintain their positions relative to one another along the mediolateral cortical axis but not the rostrocaudal axis
• reduced size and ectopically located




Genotype
MGI:3584257
cn51
Allelic
Composition
Bdnftm1Krj/Bdnf+
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S2/SvPas * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bdnftm1Krj mutation (1 available); any Bdnf mutation (32 available)
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
N
• forebrain specific heterozygotes do not become obese unlike mice heterozygous for Bdnftm1Lfr




Genotype
MGI:5316226
cn52
Allelic
Composition
Emx1tm1(cre)Krj/Emx1+
Topbp1tm1Pmc/Topbp1tm1Pmc
Genetic
Background
involves: 129S2/SvPas * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Topbp1tm1Pmc mutation (0 available); any Topbp1 mutation (56 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• extensive cortical ablation




Genotype
MGI:6382122
cn53
Allelic
Composition
Eif4a3tm1.1Dlsi/Eif4a3+
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S2/SvPas * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eif4a3tm1.1Dlsi mutation (0 available); any Eif4a3 mutation (6 available)
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• mice exhibit severe microcephaly, with an average 70% reduction in cortical area of whole mount brains at P12

nervous system
• the dorsal telencephalon is largely absent at E14.5 and of the remaining dorsal telencephalon tissue, the cortex is extremely thinned and neurons are disorganized
• smaller brain at E12.5
• forebrain is smaller at E12.5
• extensive apoptosis is seen in neocortices at E11.5 and is present in both neurons and neural stem cells throughout the dorsal cortex
• mitotic index is increased in neocortices at E11.5
• Pax6+ neural stem cells are reduced in density in neocortices at E12.5 and the thickness of the TUJ1+ neuronal layer is increased
• neocortices are smaller at E12.5 and are 30% thinner
• the dorsal telencephalon is largely absent at E14.5
• Pax6+ neural stem cells are reduced in density in neocortices at E12.5, indicating neural stem cell depletion




Genotype
MGI:5316224
cn54
Allelic
Composition
Atrtm2Bal/Atrtm2Bal
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S2/SvPas * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atrtm2Bal mutation (1 available); any Atr mutation (89 available)
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• decreased in size and cellularity
• reduced cellularity
• moderate perturbation of cortical development
• reduced cellularity, particularly in layers IV-II
• decrease in layer demarcation, particularly in layers IV-II




Genotype
MGI:5607285
cn55
Allelic
Composition
Afdntm1c(EUCOMM)Hmgu/Afdntm1c(EUCOMM)Hmgu
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S2/SvPas * C57BL/6J * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Afdntm1c(EUCOMM)Hmgu mutation (0 available); any Afdn mutation (51 available)
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryo
• marker analysis indicates disruption of adherens junctions in neuroepithelial cells at E13.5

nervous system
• adherens junctions between radial glial cells are disrupted
• increase in the proliferation of and in the number of Pax6+ radial glial cells at E13.5
• marker analysis indicates disruption of adherens junctions in neuroepithelial cells at E13.5
• accumulations of neurons at the surface of the ventricle and below the intermediate zone in which they form rosette-like structures at E16.5
• at E16.5
• structure of the ventricular zone is disorganized
• brain is larger at P25
• hippocampal structure is less well organized
• mice exhibit subcortical band heterotopia, also known as double cortex, a malformation in which heterotopic gray matter is interposed between zones of white matter
• the cortex contains a thin layer of cells near the meninges and a disorganized mass of cells heterotopically localized deeper within the cortex
• severe disorganization of the neocortex at P15
• the thickness of the developing neocortex is increased at E13.5 and the ventricular surface is disrupted and irregular
• the neocortex is severely disorganized and hyperplastic at E16.5
• proliferating cells (Pax6+ RGCs and Tbr2+ intermediate progenitors) are broadly distributed throughout the entire thickness of the nascent neocortex at E13.5 and E16.5 compared to being confined to ventricular zone (VZ) and subventricular zone (SVZ) of controls
• at E13.5, Tuj1+ neurons are distributed irregularly with some of them occupying positions within the VZ and SVZ
• at P15, the neocortex is increased in size
• the thickness of the developing neocortex is increased at E13.5
• some subtypes of cortical projection neurons are generated but their assembly into neocortical cell layers is perturbed
• massive perturbations in axonal tracts
• proliferation of cortical progenitor cells is increased, with the number of Ki67+ cells increased at E13.5 by about 50% in the neocortex, with an approximately equal increase in the number of Pax6+ radial glial cells and Tbr2+ intermediate progenitors
• the cortex contains a disorganized mass of cells heterotopically localized deeper within the cortex

cellular
• cell cycle regulation of cortical progenitor cells is altered in embryos
• adherens junctions between radial glial cells are disrupted
• increase in the proliferation of and in the number of Pax6+ radial glial cells at E13.5




Genotype
MGI:5896655
cn56
Allelic
Composition
Brpf1tm1c(EUCOMM)Wtsi/Brpf1tm1c(EUCOMM)Wtsi
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S2/SvPas * C57BL/6J * C57BL/6N
Cell Lines EPD0069_1_G06
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Brpf1tm1c(EUCOMM)Wtsi mutation (0 available); any Brpf1 mutation (24 available)
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most pups die prior to weaning at P21 (J:224155)
• most mice die before weaning (J:241490)
• however, a minority of mice survive beyond weaning (J:241490)
• slightly fewer than mice are born

nervous system
N
• mice exhibit normal cerebellum
• distribution of Gfap+ radial glial cells in the dentate gyrus is slightly disturbed at E16.5 but becomes moderately and completely disorganized at P0 and P10, respectively
• significantly fewer Gfap+ radial glial cells are found in the granular cell layer of the dentate gyrus at P10
• at P10, Tbr2+ intermediate neuronal progenitors fail to translocate to the subgranular zone and the hilum of the dentate gyrus, with some of Tbr2+ progenitors remaining at the outer rim of the molecular cell layer
• only a few NeuroD1+ neuroblasts are present in the granular cell of the dentate gyrus at P10, and almost none is found in the subgranular zone at P24, indicating abnormal migration of NeuroD1+ neuroblasts
• cell cycle progression of the dentate migration stream is impaired at E15.5, most likely through the G1 phase
• at P10 and P24, Ki67+ neuronal precursors are missing in the dentate gyrus, indicating a dramatic lack of proliferation in the subgranular zone (J:224155)
• at E15.5, the number of BrdU+ progenitors is normal in the dentate migration stream whereas the Ki67+ cycling cell population (at G1, S, G2 and M, but not G0) is significantly increased, thereby decreasing the ratio of S-phase (BrdU+) over proliferating (Ki67+) cells (J:224155)
• at E15.5
• thinner layers V to VI at P0
• immediately after birth
• absence of ventral and dorsal but not middle transverse sections at P14 and P24, but not E17.5 with only caudal reduction at P0
• at P19, the hippocampus exhibits abnormal axon and dendritic trees in the dentate gyrus as well as in the CA regions
• at P10, the hippocampus fissure is malformed
• mice exhibit partial agenesis of the hippocampus
• at P0, the suprapyramidal blade is underdeveloped, with one end remaining attached to the ventricular zone, whereas the infrapyramidal blade is missing in the developing dentate gyrus
• at P0, a much smaller population of Ctip2+ neurons is observed in the suprapyramidal blade
• at P19, fewer neurons are observed in the dentate gyrus
• mice exhibit dentate gyrus hypoplasia at E17.5 and P0
• at P8, mossy fibers of the suprapyramidal bundles and dentate hilum are missing
• at P10 and P24, the pyramidal layers of CA1 and CA3 are not as tightly packed as in control mice
• at P19, the hippocampus exhibits disorganized neurons with less robust dendritic trees
• at P24, FoxG1+ neurons are abnormally found in the CA3 field and are not as tightly packed in the CA1 field
• nuclear layers of CA1 and CA3 appear more diffusely packed than in control mice
• border between cornu ammonis 1 (CA1) and the subiculum is not clearly defined at P10 or P24
• subiculum is expanded at P10 and P24
• altered lamination observed as early as E14.5 (J:241490)
• shorter rostral-caudal length and thinner than in control mice
• at P0, the population of Sox2+ neural stem cells is decreased in the dentate gyrus; no enrichment of Sox2+ neural stem cells is noted in the subgranular zone at P10 and P14, unlike in control mice
• fewer Dcx+ immature neurons are found in the subgranular zone of the dentate gyrus at P10 and P24
• only a few NeuroD1+ neuroblasts are present in the granular cell of the dentate gyrus at P10, and almost none is found in the subgranular zone at P24

behavior/neurological
• one surviving mouse exhibited impaired marble burying behavior
• impaired nest building

growth/size/body
• at P10, but not P5, and persisting beyond weaning

cellular
• reduced histone H3K23 acetylation in cortex extracts
• cell cycle progression of the dentate migration stream is impaired at E15.5, most likely through the G1 phase; defects at E15.5 are smaller than those at or after P10
• M phase of the cell cycle appears unaffected
• distribution of Gfap+ radial glial cells in the dentate gyrus is slightly disturbed at E16.5 but becomes moderately and completely disorganized at P0 and P10, respectively
• significantly fewer Gfap+ radial glial cells are found in the granular cell layer of the dentate gyrus at P10
• at P10, Tbr2+ intermediate neuronal progenitors fail to translocate to the subgranular zone and the hilum of the dentate gyrus, with some of Tbr2+ progenitors remaining at the outer rim of the molecular cell layer
• only a few NeuroD1+ neuroblasts are present in the granular cell of the dentate gyrus at P10, and almost none is found in the subgranular zone at P24, indicating abnormal migration of NeuroD1+ neuroblasts
• cell cycle progression of the dentate migration stream is impaired at E15.5, most likely through the G1 phase
• at P10 and P24, Ki67+ neuronal precursors are missing in the dentate gyrus, indicating a dramatic lack of proliferation in the subgranular zone (J:224155)
• at E15.5, the number of BrdU+ progenitors is normal in the dentate migration stream whereas the Ki67+ cycling cell population (at G1, S, G2 and M, but not G0) is significantly increased, thereby decreasing the ratio of S-phase (BrdU+) over proliferating (Ki67+) cells (J:224155)

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
syndromic intellectual disability DOID:0050888 J:240552




Genotype
MGI:6502664
cn57
Allelic
Composition
Cmtr1tm1b(EUCOMM)Hmgu/Cmtr1tm1b(EUCOMM)Hmgu
Emx1tm1(cre)Krj/Emx1+
Tg(Thy1-YFP)HJrs/0
Genetic
Background
involves: 129S2/SvPas * C57BL/6J * C57BL/6N * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cmtr1tm1b(EUCOMM)Hmgu mutation (0 available); any Cmtr1 mutation (42 available)
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Tg(Thy1-YFP)HJrs mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• reduced number of dendritic intersections at a given distance from the soma of cortical layer 5 neuro

immune system
• lack of inflammatory response in Japanese-encephalitis-infected neocortex




Genotype
MGI:5896662
cn58
Allelic
Composition
Kat6atm1c(EUCOMM)Wtsi/Kat6atm1c(EUCOMM)Wtsi
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S2/SvPas * C57BL/6J * C57BL/6N * CD-1
Cell Lines EPD0028_5_E11
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Kat6atm1c(EUCOMM)Wtsi mutation (0 available); any Kat6a mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
N
• mice appear normal and show no detectable brain defects, as revealed by Nissl staining




Genotype
MGI:5897782
cn59
Allelic
Composition
Emx1tm1(cre)Krj/Emx1+
Rcor2tm1c(EUCOMM)Wtsi/Rcor2tm1c(EUCOMM)Wtsi
Genetic
Background
involves: 129S2/SvPas * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Rcor2tm1c(EUCOMM)Wtsi mutation (0 available); any Rcor2 mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• at E13.5 and E15.5




Genotype
MGI:5614424
cn60
Allelic
Composition
Chn1tm1Ito/Chn1tm1.1Ito
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S2/SvPas * C57BL/6NSlc
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chn1tm1.1Ito mutation (1 available); any Chn1 mutation (38 available)
Chn1tm1Ito mutation (1 available); any Chn1 mutation (38 available)
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
N
• unlike in germ line null mice, the gait is similar to that in wild-type mice




Genotype
MGI:4399057
cn61
Allelic
Composition
Emx1tm1(cre)Krj/Emx1+
Lhx2tm1.1Ddmo/Lhx2tm1.1Ddmo
Genetic
Background
involves: 129S2/SvPas * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Lhx2tm1.1Ddmo mutation (0 available); any Lhx2 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• the telencephalon exhibits abnormal patterning compared to in wild-type mice
• at P7, the cortices are half the size of the cortices in wild-type mice
• the neocortex is small with abnormal lamination patterns compared to in wild-type mice
• the lateral neocortex is replaced with an ectopic piriform cortex that is not a displaced endogenous piriform cortex but refated lateral neocortex cells
• the ectopic piriform cortex is 400% larger than the normal piriform cortex
• between E15.5 and P0 the endogenous piriform cortex disappears
• however, the neocortex is normal at E13.5
• olfactory bulb projections continue beyond the ectopic piriform cortex and project into layer 1 through much of the neo cortex unlike in wild-type mice
• the lateral neocortex is replaced with an ectopic piriform cortex that is not a displaced endogenous piriform cortex but refated lateral neocortex cells
• at P7, the piriform cortex is absent from its normal ventral position
• however, the piriform cortex is present at E13.5




Genotype
MGI:5308068
cn62
Allelic
Composition
Emx1tm1(cre)Krj/Emx1+
Esco2tm1.1Ge/Esco2tm1.1Ge
Genetic
Background
involves: 129S2/SvPas * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Esco2tm1.1Ge mutation (1 available); any Esco2 mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• of neuronal progenitor cells in the ventricular zone
• 2-fold increase in the number of mitotic cells at E11.25 in the neuroepithelium of the neocortex but not of the ganglionic eminence
• nearly complete agenesis of the neocortical and hippocampal neuroepithelium at E12.5
• reduced hippocampal primordium at E11.25
• nearly complete agenesis of the neocortical and hippocampal neuroepithelium at E12.5
• in adult mice
• nearly complete agenesis of the neocortical and hippocampal neuroepithelium at E12.5
• neuroepithelium at E12.5
• adult mice lack most of the cortex

embryo
• nearly complete agenesis of the neocortical and hippocampal neuroepithelium at E12.5

cellular
• of neuronal progenitor cells in the ventricular zone
• 2-fold increase in the number of mitotic cells at E11.25 in the neuroepithelium of the neocortex but not of the ganglionic eminence

growth/size/body
• severe




Genotype
MGI:4399056
cn63
Allelic
Composition
Emx1tm1(cre)Krj/Emx1+
Lhx2tm1.1Ddmo/Lhx2tm1.2Ddmo
Genetic
Background
involves: 129S2/SvPas * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Lhx2tm1.1Ddmo mutation (0 available); any Lhx2 mutation (8 available)
Lhx2tm1.2Ddmo mutation (0 available); any Lhx2 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• the telencephalon exhibits abnormal patterning compared to in wild-type mice
• at P7, the cortices are half the size of the cortices in wild-type mice
• the neocortex is small with abnormal lamination patterns compared to in wild-type mice
• the lateral neocortex is replaced with an ectopic piriform cortex that is not a displaced endogenous piriform cortex but refated lateral neocortex cells
• the ectopic piriform cortex is 400% larger than the normal piriform cortex
• between E15.5 and P0 the endogenous piriform cortex disappears
• however, the neocortex is normal at E13.5
• olfactory bulb projections continue beyond the ectopic piriform cortex and project into layer 1 through much of the neo cortex unlike in wild-type mice
• the lateral neocortex is replaced with an ectopic piriform cortex that is not a displaced endogenous piriform cortex but refated lateral neocortex cells
• at P7, the piriform cortex is absent from its normal ventral position
• however, the piriform cortex is present at E13.5




Genotype
MGI:5607288
cn64
Allelic
Composition
Cdh2tm1Glr/Cdh2tm1Glr
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdh2tm1Glr mutation (1 available); any Cdh2 mutation (37 available)
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• adherens junctions between radial glial cells are disrupted
• localization of adherens junction proteins is perturbed in the ventricular zone of the developing dorsal telencephalon at E13.5
• laminar structure of the cortex is disrupted
• Pax6+ radial glial cells and Tbr2+ progenitor cells and Tuj1+ neurons are distributed throughout the entire thickness of the neocortex and the distribution of cells is not homogenous, and numerous rosette-like structures are detected
• cortex is severely hyperplastic by P13 and vastly increased in size
• massive disorganization of axonal tracts
• massive increases in progenitor cell numbers and in their proliferation at E13.5
• massive heterotopia forms below a thin band of cells near the meninges

cellular
• adherens junctions between radial glial cells are disrupted




Genotype
MGI:4412088
cn65
Allelic
Composition
Emx1tm1(cre)Krj/Emx1+
Gsx2tm2.1Kc/Gsx2tm2.1Kc
Tg(CAG-cat,-EGFP)1Rbns/0
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Gsx2tm2.1Kc mutation (0 available); any Gsx2 mutation (10 available)
Tg(CAG-cat,-EGFP)1Rbns mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• mice exhibit respecification of olfactory bulb interneuron towards olfactory bulb projection neuron cell fate, as determined by marker expression




Genotype
MGI:4412086
cn66
Allelic
Composition
Emx1tm1(cre)Krj/Emx1+
Gsx2tm2.1Kc/Gsx2tm2.1Kc
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Gsx2tm2.1Kc mutation (0 available); any Gsx2 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• mice exhibit defects in olfactory bulb neurogenesis, as determined by marker expression
• mice exhibit defects in olfactory bulb neurogenesis, as determined by marker expression
• mice exhibit respecification of null areas in the dorsal portion of the lateral ganglionic eminence toward a pallial cell fate

cellular
• mice exhibit defects in olfactory bulb neurogenesis, as determined by marker expression




Genotype
MGI:5496787
cn67
Allelic
Composition
Tsc2tm1.1Kcess/Tsc2tm1.1Kcess
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S/Sv * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Tsc2tm1.1Kcess mutation (1 available); any Tsc2 mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice start dying at P4 with complete lethality at P21
• however, rapamycin treatment rescues lethality

growth/size/body
• however, treatment with rapamycin restores body weight
• during the first few days after birth

behavior/neurological
• prior to death in many mice during routine handling

nervous system
• prior to death in many mice during routine handling




Genotype
MGI:6385155
cn68
Allelic
Composition
Gm30731tm1.1Dalm/Gm30731tm1.1Dalm
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S/SvEv * 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Gm30731tm1.1Dalm mutation (0 available); any Gm30731 mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• altered postnatal cortical lamination
• of CTIP2+neurons in the cortical plate at E13.5
• reduced proliferation of ventricular zone cells at E13.5
• fewer neurons born at E15.5 and P14 in the cortex with reduced BrdU+;CUX1+ cells in the upper layers




Genotype
MGI:4440904
cn69
Allelic
Composition
Bhlhe22tm2.1Meg/Bhlhe22tm2.1Meg
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129/Sv * 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bhlhe22tm2.1Meg mutation (0 available); any Bhlhe22 mutation (8 available)
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
N
• mice do not show skin lesions

integument
N
• mice do not show skin lesions to selective deletion in the dorsal telencephalon




Genotype
MGI:6382138
cn70
Allelic
Composition
Emx1tm1(cre)Krj/Emx1+
Magohtm1c(KOMP)Dlsi/Magoh+
Genetic
Background
involves: BALB/cJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Magohtm1c(KOMP)Dlsi mutation (0 available); any Magoh mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• in P12 mice




Genotype
MGI:5810138
cn71
Allelic
Composition
Bicd2tm1Hgrd/Bicd2tm1Hgrd
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bicd2tm1Hgrd mutation (0 available); any Bicd2 mutation (22 available)
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Abnormally oriented axonal bundles coursing from the superficial lamina towards the capsula interna in neocortex of Bicd2tm1Hgrd/Bicd2tm1HgrdEmx1tm1(cre)Krj/Emx1+ mice

nervous system
N
• mice survive to >8 weeks (when they are sacrificed) and do not develop hydrocephalus
• immunofluorescence of neurofilament-M revealed abnormally oriented axonal bundles coursing from the superficial lamina towards the capsula interna in the neocortex
• mice exhibit disrupted laminar organization in the hippocampus
• mice exhibit disrupted laminar organization in the cerebral cortex

cellular
• immunofluorescence of neurofilament-M revealed abnormally oriented axonal bundles coursing from the superficial lamina towards the capsula interna in the neocortex




Genotype
MGI:5803996
cn72
Allelic
Composition
Emx1tm1(cre)Krj/Emx1+
Rbm8atm1Dlsi/Rbm8a+
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (27 available)
Rbm8atm1Dlsi mutation (0 available); any Rbm8a mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• severe microcephaly at P0 and P12 (J:221648)
• microcephaly arises during embryogenesis between E11.5 and E12.5, with marked microcephaly noted by E14.5 (J:221648)
• microcephaly in P12 mice (J:235650)

nervous system
• at E12.5, ~7% of all Pax6+ radial glia undergo apoptosis
• at E12.5, radial glia apoptosis is less extensive than neuronal apoptosis, with ~7% of all Pax6+ radial glia undergoing apoptosis versus 21% of all Tuj1+ neurons
• at E11.5, a slight increase in apoptosis is observed in dorsal neocortices relative to controls, as shown by cleaved-caspase3 (CC3) and TUNEL staining
• by E12.5, extensive apoptosis is detected throughout the thickness of the neocortex and is especially high in basal layers (cortical plate and subplate), where neurons reside following migration
• at E13.5, the remaining radial glia in the neocortex appear disorganized
• although the number of Pax6+ radial glial cells is normal at E11.5, a 54% reduction in radial glia density in seen in the developing neocortex by E12.5
• in culture, primary dissociated cells from E12.5 dorsal neocortices show a 1.5-fold reduction in Pax6+ radial glia relative to controls; a 2-fold decrease in radial glia is noted at E13.5
• neurogenesis defects affecting progenitor proliferation, progenitor and neuron number, and apoptosis
• in culture, primary dissociated cells from E11.5 dorsal neocortices show a significantly lower fraction of EdU+Ki67+ cycling progenitors relative to controls, indicating that a higher fraction of progenitors have exited the cell cycle
• increased cell-cycle exit is associated with a significantly higher fraction of EdU+Tuj1+, consistent with an increased neuron number
• significant increase in cortical progenitor proliferation at E11.5 relative to controls, as determined by phospho-histone3 (PH3) staining
• by E14.5, the ventricle and dorsal telencephalon are severely reduced
• brains are ~70% smaller at P12
• significant reduction in the dorsal surface area of the cortex at P12 (J:221648)
• brains are missing most of their pallium (J:235650)
• markedly thinner neocortex by E13.5
• most of the neocortex is missing at P0
• severe cortical lamination defects including loss of virtually all upper layer neurons
• at P0, remaining neocortical tissue shows a significant reduction of both Cux1+ (layers II/III) and Foxp1+ (layers III-V) neurons relative to controls
• although the density of Tbr1+ (layer VI) neurons is not significantly reduced at P0, Tbr1+ neurons are improperly distributed throughout the cortical tissue
• although brains show normal cortical thickness in dorsal neocortices at E11.5, cortices are 21% thinner by E12.5
• by E13.5, dorsal cortices are 50% thinner than in control brains; seen in both dorsal and more lateral cortical regions
• at E13.5, the density of Tbr2+ intermediate progenitors in the developing neocortex is reduced by 87%
• Cux1+ neurons (layer II/III) are nearly ablated
• Satb2+ superficial and some deep layer neurons are reduced
• significant increase in Tbr1+ deep-layer neurons in the neocortex at E12.5 relative to controls
• in culture, primary dissociated cells from E12.5 dorsal neocortices show a 2.7-fold increase in Tuj1+ immature neurons relative to controls; a similar (2.5-fold) increase in neuron number is noted at E13.5
• although the relative distribution of Tuj1+ immature neurons is normal at E11.5, the layer of Tuj1+ neurons in the developing neocortex is strikingly expanded by E12.5
• at E13.5, Tuj1+ neurons are detected throughout the thickness of the dorsal neocortex, indicating aberrant distribution of postmitotic neurons

cellular
• at E12.5, ~7% of all Pax6+ radial glia undergo apoptosis
• at E12.5, radial glia apoptosis is less extensive than neuronal apoptosis, with ~7% of all Pax6+ radial glia undergoing apoptosis versus 21% of all Tuj1+ neurons
• at E11.5, a slight increase in apoptosis is observed in dorsal neocortices relative to controls, as shown by cleaved-caspase3 (CC3) and TUNEL staining
• by E12.5, extensive apoptosis is detected throughout the thickness of the neocortex and is especially high in basal layers (cortical plate and subplate), where neurons reside following migration
• at E13.5, the remaining radial glia in the neocortex appear disorganized
• although the number of Pax6+ radial glial cells is normal at E11.5, a 54% reduction in radial glia density in seen in the developing neocortex by E12.5
• in culture, primary dissociated cells from E12.5 dorsal neocortices show a 1.5-fold reduction in Pax6+ radial glia relative to controls; a 2-fold decrease in radial glia is noted at E13.5
• neurogenesis defects affecting progenitor proliferation, progenitor and neuron number, and apoptosis
• in culture, primary dissociated cells from E11.5 dorsal neocortices show a significantly lower fraction of EdU+Ki67+ cycling progenitors relative to controls, indicating that a higher fraction of progenitors have exited the cell cycle
• increased cell-cycle exit is associated with a significantly higher fraction of EdU+Tuj1+, consistent with an increased neuron number
• significant increase in cortical progenitor proliferation at E11.5 relative to controls, as determined by phospho-histone3 (PH3) staining





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
01/18/2022
MGI 6.17
The Jackson Laboratory