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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tg(Pcp2-cre)2Mpin
transgene insertion 2, Max-Planck-Institute of Neurobiology
MGI:2137515
Summary 50 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Vps18tm1.1Wtao/Vps18tm1.1Wtao
Tg(Pcp2-cre)2Mpin/0
B.129-Vps18tm1.1Wtao Tg(Pcp2-cre)2Mpin MGI:5431980
cn2
Ankrd16tm1.1Slac/Ankrd16tm1.2Slac
Tg(Pcp2-cre)2Mpin/0
B6.129-Ankrd16tm1.1Slac/Ankrd16tm1.2Slac Tg(Pcp2-cre)2Mpin MGI:6197725
cn3
Npc1tm1.1Apl/Npc1tm1.2Apl
Tg(Pcp2-cre)2Mpin/0
B6.Cg-Npc1tm1.1Apl/Npc1tm1.2Apl Tg(Pcp2-cre)2Mpin MGI:4436742
cn4
Camk2atm1.1Yelg/Camk2atm1.1Yelg
Tg(Pcp2-cre)2Mpin/0
B6J.Cg-Camk2atm1.1Yelg Tg(Pcp2-cre)2Mpin MGI:5795691
cn5
Kat2atm3.1Roth/Kat2atm3.2Roth
Tg(Pcp2-cre)2Mpin/0
involves: 129 MGI:5315468
cn6
Mfn1tm1Dcc/Mfn1tm2Dcc
Mfn2tm1Dcc/Mfn2tm3Dcc
Tg(Pcp2-cre)2Mpin/0
involves: 129 * 129S4/SvJaeSor * Black Swiss MGI:3779091
cn7
Mfn2tm1Dcc/Mfn2tm3Dcc
Tg(Pcp2-cre)2Mpin/0
involves: 129 * 129S4/SvJaeSor * Black Swiss MGI:3779096
cn8
Rbfox1tm1.1Dblk/Rbfox1tm1.1Dblk
Rbfox2tm1.1Dblk/Rbfox2tm1.1Dblk
Tg(Pcp2-cre)2Mpin/0
involves: 129 * C57BL/6J MGI:5318257
cn9
Cacna1atm2.1Maag/Cacna1atm2.1Maag
Tg(Pcp2-cre)2Mpin/0
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ MGI:5903412
cn10
Slc12a5tm2.1Tjj/Slc12a5tm2.1Tjj
Gabra6tm2(cre)Wwis/Gabra6+
Tg(Pcp2-cre)2Mpin/0
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:5315754
cn11
Cacna1atm1.1Ehess/Cacna1atm2.1Maag
Tg(Pcp2-cre)2Mpin/0
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:5707185
cn12
Ercc6tm1Gvh/Ercc6tm1Gvh
Xpatm1Gvh/Xpatm1Hvs
Tg(Pcp2-cre)2Mpin/0
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:5312301
cn13
Cacna1atg/Cacna1atm2.1Maag
Tg(Pcp2-cre)2Mpin/0
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J * DBA/2J * FVB/N MGI:5792055
cn14
Sgcetm2.1Ygl/Sgce+
Tg(Pcp2-cre)2Mpin/0
involves: 129S1/Sv * 129S2/SvPas * 129S4/SvJaeSor * 129X1/SvJ MGI:5308944
cn15
Slit2tm1.1Ics/Slit2tm1.1Ics
Tg(Pcp2-cre)2Mpin/?
involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * C57BL/6 * CD-1 MGI:5705339
cn16
Cacna1atm1.1Sher/Cacna1atm1.1Sher
Tg(Pcp2-cre)2Mpin/0
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ MGI:4949731
cn17
Tsc1tm1Djk/Tsc1tm1Djk
Tg(Pcp2-cre)2Mpin/0
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * BALB/cJ * C57BL/6J MGI:5641483
cn18
Tsc1tm1Djk/Tsc1+
Tg(Pcp2-cre)2Mpin/0
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * BALB/cJ * C57BL/6J MGI:5641482
cn19
Gt(ROSA)26Sortm7(CAG-mCherry,-EGFP/tetX)Dym/Gt(ROSA)26Sor+
Tg(ACTFLPe)9205Dym/0
Tg(Pcp2-cre)2Mpin/0
involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6 * SJL MGI:4412292
cn20
Stxbp1tm1Mver/Stxbp1tm1Mver
Tg(Pcp2-cre)2Mpin/0
involves: 129S1/Sv * 129X1/SvJ MGI:5509153
cn21
Fmr1tm1.1Cidz/Fmr1tm1.1Cidz
Tg(Pcp2-cre)2Mpin/0
involves: 129S1/Sv * 129X1/SvJ MGI:3604219
cn22
Calb1tm2.1Mpin/Calb1tm2.1Mpin
Tg(Pcp2-cre)2Mpin/?
involves: 129S1/Sv * 129X1/SvJ MGI:3848703
cn23
Use1tm1.1Aha/Use1tm1.2Aha
Tg(Pcp2-cre)2Mpin/0
involves: 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6 * SJL MGI:3842577
cn24
Afg3l2tm1Arte/Afg3l2tm1Arte
Tg(Pcp2-cre)2Mpin/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:5476801
cn25
Slc12a5tm2.1Tjj/Slc12a5tm2.1Tjj
Tg(Pcp2-cre)2Mpin/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:5315752
cn26
Slc12a6tm1.1Tjj/Slc12a6tm1.1Tjj
Tg(Pcp2-cre)2Mpin/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:5315755
cn27
Afg3l2tm1Arte/Afg3l2tm1Arte
Gt(ROSA)26Sortm1Lrsn/Gt(ROSA)26Sor+
Tg(Pcp2-cre)2Mpin/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:5476802
cn28
Slc26a11tm1.1Cidz/Slc26a11tm1.1Cidz
Tg(Pcp2-cre)2Mpin/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:5897352
cn29
Gabrg2tm1Wul/Gabrg2tm1Wul
Tg(Pcp2-cre)2Mpin/?
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3723058
cn30
Robo2tm1Rilm/Robo2tm1Rilm
Tg(Pcp2-cre)2Mpin/?
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1 MGI:5705334
cn31
Gabrg2tm1Wul/Gabrg2tm1Wul
Tg(Pcp2-cre)2Mpin/?
Tg(Pcp2-EGFP/Gabrg2)1Wul/?
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2 MGI:3757963
cn32
Tg(Pcp2-cre)2Mpin/0
Tsc2tm1.1Mjg/Tsc2tm1.2Mjg
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:5140838
cn33
Shank2tm1.1Bcgen/Shank2tm1.1Bcgen
Tg(Pcp2-cre)2Mpin/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:5816914
cn34
Tg(Pcp2-cre)2Mpin/0
Tsc2tm1.1Mjg/Tsc2tm1.1Mjg
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:5140843
cn35
Btbd9tm1c(EUCOMM)Wtsi/Btbd9tm1c(EUCOMM)Wtsi
Tg(Pcp2-cre)2Mpin/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6N MGI:6488227
cn36
Adgrb2tm1Yazu/Adgrb2tm1Yazu
Tg(Pcp2-cre)2Mpin/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6N MGI:5896612
cn37
Mcutm1c(EUCOMM)Hmgu/Mcutm1c(EUCOMM)Hmgu
Tg(Pcp2-cre)2Mpin/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6N MGI:6393522
cn38
Adgrb3tm1Ksak/Adgrb3tm1Ksak
Tg(Pcp2-cre)2Mpin/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6N MGI:5896611
cn39
Nlgn2tm1.1Sud/Nlgn2tm1.1Sud
Nlgn3tm4.1Sud/Y
Tg(Pcp2-cre)2Mpin/?
involves: 129S1/Sv * 129X1/SvJ * C57BL/6NTac MGI:5754962
cn40
Nlgn1tm1.1Sud/Nlgn1tm1.1Sud
Nlgn2tm1.1Sud/Nlgn2tm1.1Sud
Nlgn3tm4.1Sud/Y
Tg(Pcp2-cre)2Mpin/?
involves: 129S1/Sv * 129X1/SvJ * C57BL/6NTac MGI:5754963
cn41
Nlgn1tm1.1Sud/Nlgn1tm1.1Sud
Nlgn3tm4.1Sud/Y
Tg(Pcp2-cre)2Mpin/?
involves: 129S1/Sv * 129X1/SvJ * C57BL/6NTac MGI:5754948
cn42
Nlgn1tm1.1Sud/Nlgn1tm1.1Sud
Tg(Pcp2-cre)2Mpin/?
involves: 129S1/Sv * 129X1/SvJ * C57BL/6NTac MGI:5754949
cn43
Nlgn3tm4.1Sud/Y
Tg(Pcp2-cre)2Mpin/?
involves: 129S1/Sv * 129X1/SvJ * C57BL/6NTac MGI:5754960
cn44
Nlgn2tm1.1Sud/Nlgn2tm1.1Sud
Tg(Pcp2-cre)2Mpin/?
involves: 129S1/Sv * 129X1/SvJ * C57BL/6NTac MGI:5754961
cn45
Nlgn3tm4.1Sud/Y
Tg(Pcp2-cre)2Mpin/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL MGI:5660862
cn46
Rad50tm1Jpt/Rad50tm3Jpt
Tg(Pcp2-cre)2Mpin/0
involves: 129S7/SvEvBrd * C57BL/6 MGI:3832543
cn47
Itpr1tm1.1Kmik/Itpr1tm1.1Kmik
Tg(Pcp2-cre)2Mpin/0
involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:5532284
cn48
Itpr1tm1.1Kmik/Itpr1tm1.1Kmik
Tg(Pcp2-cre)2Mpin/0
Tg(Pcp2-EGFP)2Yuza/0
involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N MGI:5532285
cn49
Prkg1tm2Naw/Prkg1tm2Naw
Tg(Pcp2-cre)2Mpin/?
involves: 129/Sv * C57BL/6 MGI:2680086
tg50
Tg(Pcp2-cre)2Mpin/0 involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3531210


Genotype
MGI:5431980
cn1
Allelic
Composition
Vps18tm1.1Wtao/Vps18tm1.1Wtao
Tg(Pcp2-cre)2Mpin/0
Genetic
Background
B.129-Vps18tm1.1Wtao Tg(Pcp2-cre)2Mpin
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Pcp2-cre)2Mpin mutation (1 available)
Vps18tm1.1Wtao mutation (0 available); any Vps18 mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Neurodegeneration in Vps18tm1.1Wtao/Vps18tm1.1Wtao Tg(Nes-cre)1Kln/0 and Vps18tm1.1Wtao/Vps18tm1.1Wtao Tg(Pcp2-cre)2Mpin/0 brains

nervous system
N
• Purkinje cells proliferation is normal
• dramatic loss at 1 month
• very few Purkinje cells are present at 3 months




Genotype
MGI:6197725
cn2
Allelic
Composition
Ankrd16tm1.1Slac/Ankrd16tm1.2Slac
Tg(Pcp2-cre)2Mpin/0
Genetic
Background
B6.129-Ankrd16tm1.1Slac/Ankrd16tm1.2Slac Tg(Pcp2-cre)2Mpin
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ankrd16tm1.1Slac mutation (0 available); any Ankrd16 mutation (21 available)
Ankrd16tm1.2Slac mutation (0 available); any Ankrd16 mutation (21 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• beginning at 3 weeks of age with the majority of cells absent at 4 weeks of age and no Purkinje cells by 7 months
• absent by 7 months




Genotype
MGI:4436742
cn3
Allelic
Composition
Npc1tm1.1Apl/Npc1tm1.2Apl
Tg(Pcp2-cre)2Mpin/0
Genetic
Background
B6.Cg-Npc1tm1.1Apl/Npc1tm1.2Apl Tg(Pcp2-cre)2Mpin
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Npc1tm1.1Apl mutation (0 available); any Npc1 mutation (52 available)
Npc1tm1.2Apl mutation (0 available); any Npc1 mutation (52 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• mice do not exhibit premature death

nervous system
N
• Purkinje cells exhibit normal electrophysiology
• as early as 5.5 to 7 weeks, mice exhibit loss of Purkinje cells unlike wild-type mice
• by 10 weeks, mice exhibit a 15% loss of Purkinje cells in lobule X compared with wild-type mice
• however, no further loss of Purkinje cells in lobule X occur between 10 and 20 weeks
• Purkinje cell loss in lobules II-V is greater than 75% at 10 weeks and approaches 100% by 15 weeks

behavior/neurological
• by 13 weeks
• by 10 weeks, mice exhibit difficulties traversing a balance beam unlike wild-type mice
• by 15 weeks, mice exhibit impaired performance on a rotarod compared with wild-type mice
• motor defects are age-dependent

homeostasis/metabolism
• mice exhibit age-dependent unesterified cholesterol accumulation in Purkinje cells unlike in wild-type mice

growth/size/body
N
• mice do not exhibit weight loss

immune system

hematopoietic system




Genotype
MGI:5795691
cn4
Allelic
Composition
Camk2atm1.1Yelg/Camk2atm1.1Yelg
Tg(Pcp2-cre)2Mpin/0
Genetic
Background
B6J.Cg-Camk2atm1.1Yelg Tg(Pcp2-cre)2Mpin
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Camk2atm1.1Yelg mutation (0 available); any Camk2a mutation (126 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
N
• at 2-5 months of age, mice exhibit normal spatial learning in the hidden version of the Morris water maze with a clear preference for the platform quadrant during the probe trial and a similar reduction in latency times during training relative to control littermates
• in addition, mice display intact contextual fear conditioning relative to control littermates




Genotype
MGI:5315468
cn5
Allelic
Composition
Kat2atm3.1Roth/Kat2atm3.2Roth
Tg(Pcp2-cre)2Mpin/0
Genetic
Background
involves: 129
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kat2atm3.1Roth mutation (1 available); any Kat2a mutation (26 available)
Kat2atm3.2Roth mutation (1 available); any Kat2a mutation (26 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
N
• mutants exhibit normal hind limb extension in tail suspensions assays
• mutants develop a mildly uncoordinated gait with wider paired distance

nervous system
• the cerebellar vermis is smaller




Genotype
MGI:3779091
cn6
Allelic
Composition
Mfn1tm1Dcc/Mfn1tm2Dcc
Mfn2tm1Dcc/Mfn2tm3Dcc
Tg(Pcp2-cre)2Mpin/0
Genetic
Background
involves: 129 * 129S4/SvJaeSor * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mfn1tm1Dcc mutation (0 available); any Mfn1 mutation (33 available)
Mfn1tm2Dcc mutation (2 available); any Mfn1 mutation (33 available)
Mfn2tm1Dcc mutation (0 available); any Mfn2 mutation (22 available)
Mfn2tm3Dcc mutation (2 available); any Mfn2 mutation (22 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• Purkinje cell death in 9 weeks-old mutant mice cerebella
• Purkinje cell dendrite attenuation in 9 weeks-old mutant mice cerebella

cellular
• decreased cytochrome C oxidase activity and increased succinate dehydrogenase activity in Purkinje cells of 9-weeks-old mutant mice indicating the electron transport chain dysfunction in mitochondria




Genotype
MGI:3779096
cn7
Allelic
Composition
Mfn2tm1Dcc/Mfn2tm3Dcc
Tg(Pcp2-cre)2Mpin/0
Genetic
Background
involves: 129 * 129S4/SvJaeSor * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mfn2tm1Dcc mutation (0 available); any Mfn2 mutation (22 available)
Mfn2tm3Dcc mutation (2 available); any Mfn2 mutation (22 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• a progressive decline in coordination and balance in rotarod test
• at 2 months of age, they begin to exhibit a slightly shaky gait
• mutants are indistinguishable from wild-type littermates first 2 mo

nervous system
• obvious neuro-degeneration of cerebella over time
• the dendrites and death of Purkinje cell bodies resulting in very few surviving Purkinje cells by 3 months
• essentially all Purkinje cells are gone at 6 months of age
• Purkinje cell dendrite attenuation in 9 weeks-old mutant mice cerebella
• by 3 months of age, the mutant cerebella are only 75% that of wild-type
• by 1 year of age, the overall cerebellar area of mutants has dropped to 50% of wild-type
• the greatest loss occurs in the molecular layer
• by 7 weeks, mutant axons show extensive torpedoes, focal swellings typical of many neuropathies

cellular
• ultrastructurally the mitochondria in mutant Purkinje cells shows dramatic defects in mitochondrial morphology, distribution, and cristae organization
• ecreased cytochrome C oxidase activity and increased succinate dehydrogenase activity in Purkinje cells of 9-weeks-old mutant mice indicating the electron transport chain dysfunction in mitochondria




Genotype
MGI:5318257
cn8
Allelic
Composition
Rbfox1tm1.1Dblk/Rbfox1tm1.1Dblk
Rbfox2tm1.1Dblk/Rbfox2tm1.1Dblk
Tg(Pcp2-cre)2Mpin/0
Genetic
Background
involves: 129 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rbfox1tm1.1Dblk mutation (1 available); any Rbfox1 mutation (19 available)
Rbfox2tm1.1Dblk mutation (1 available); any Rbfox2 mutation (80 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
N
• do not display ataxia
• shorter mean latency to fall in the first trial and performance improves only slightly over subsequent trials

nervous system
N
• do not display defects in cerebellar development
• at P70, but not at P20, Purkinje cells show a decrease in firing frequency
• at P70 Purkinje cells show an increase in variability of firing




Genotype
MGI:5903412
cn9
Allelic
Composition
Cacna1atm2.1Maag/Cacna1atm2.1Maag
Tg(Pcp2-cre)2Mpin/0
Genetic
Background
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cacna1atm2.1Maag mutation (0 available); any Cacna1a mutation (85 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mice start showing problems righting themselves around P10-P12
• slight, but significant, increase in tremor with age
• ataxia starts at P10-12
• mice start showing loss of balance during walking around P10-12
• P18 mice perform worse on the rotarod than wild-type mice
• P30 mice are severely impaired on the rotarod, staying a shorter amount of time on the accelerating rod than wild-type mice, falling off the rod at a lower rotating speed, and do not improve over time

nervous system
• degeneration of molecular layer interneurons by P200-250
• volume reductions and increase in surface density in all cerebellar nuclei
• neurodegenerative changes are first seen around P45, with argyrophylic staining in the Purkinje cell layer
• Purkinje cell degeneration in the cerebellum is clearly seen from P60, showing somatic sprouting and axonal swellings and progresses until P200-P250 when a significant decrease in Purkinje cell number is seen
• degeneration of granule cells by P200-250
• neurodegenerative changes are first seen around P45, with argyrophylic staining in the molecular layer

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
cerebellar ataxia DOID:0050753 J:234599




Genotype
MGI:5315754
cn10
Allelic
Composition
Slc12a5tm2.1Tjj/Slc12a5tm2.1Tjj
Gabra6tm2(cre)Wwis/Gabra6+
Tg(Pcp2-cre)2Mpin/0
Genetic
Background
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gabra6tm2(cre)Wwis mutation (2 available); any Gabra6 mutation (27 available)
Slc12a5tm2.1Tjj mutation (0 available); any Slc12a5 mutation (30 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mice exhibit impairment in vestibuloocular reflex in the dark decrease learning and dark, gain consolidation compared with wild-type mice
• mice exhibit impaired vestibuloocular reflex in the dark phase adjustment from day 4 (long-term memory consolidation) compared with wild-type mice
• mice exhibit impairment in vestibuloocular reflex in the dark decrease learning and dark, gain consolidation compared with wild-type mice
• mice exhibit decreased gain in optokinetic reflex compared with wild-type mice
• mice exhibit a phase lag during optokinetic reflex compared with wild-type mice
• mice exhibit a phase lag during vestibuloocular reflex in the dark compared with wild-type mice
• mice exhibit impairment in vestibuloocular reflex in the dark decrease learning compared with wild-type mice
• mice exhibit a phase lag during vestibuloocular reflex in the light compared with wild-type mice

nervous system
N
• mice exhibit normal cerebellar histology, synaptic morphology and synaptic function
• mice exhibit reduced GABA-induced chloride ion currents compared with wild-type mice that is not as severe as in Slc12a5tm2.1Tjj/Slc12a5tm2.1Tjj Tg(Pcp2-cre)2Mpin mice

hearing/vestibular/ear
• mice exhibit a phase lag during vestibuloocular reflex in the dark compared with wild-type mice
• mice exhibit impairment in vestibuloocular reflex in the dark decrease learning compared with wild-type mice
• mice exhibit a phase lag during vestibuloocular reflex in the light compared with wild-type mice




Genotype
MGI:5707185
cn11
Allelic
Composition
Cacna1atm1.1Ehess/Cacna1atm2.1Maag
Tg(Pcp2-cre)2Mpin/0
Genetic
Background
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cacna1atm1.1Ehess mutation (1 available); any Cacna1a mutation (85 available)
Cacna1atm2.1Maag mutation (0 available); any Cacna1a mutation (85 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
N
• mice do not exhibit motor dysfunction on the rotarod




Genotype
MGI:5312301
cn12
Allelic
Composition
Ercc6tm1Gvh/Ercc6tm1Gvh
Xpatm1Gvh/Xpatm1Hvs
Tg(Pcp2-cre)2Mpin/0
Genetic
Background
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ercc6tm1Gvh mutation (0 available); any Ercc6 mutation (49 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
Xpatm1Gvh mutation (0 available); any Xpa mutation (16 available)
Xpatm1Hvs mutation (3 available); any Xpa mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Neurodegenerative changes in Ercc6tm1Gvh/Ercc6tm1Gvh Xpatm1Gvh/Xpatm1Hvs Tg(Pcp2-cre)2Mpin/0 mice

nervous system
• argyrophilic axonal degeneration in the cerebellar white matter and cerebellar nuclei

immune system

hematopoietic system




Genotype
MGI:5792055
cn13
Allelic
Composition
Cacna1atg/Cacna1atm2.1Maag
Tg(Pcp2-cre)2Mpin/0
Genetic
Background
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J * DBA/2J * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cacna1atg mutation (1 available); any Cacna1a mutation (85 available)
Cacna1atm2.1Maag mutation (0 available); any Cacna1a mutation (85 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mice exhibit dystonia that is more severe than in single Cacna1atg homozygotes
• more than 95% of abnormal movements are either tonic or clonic
• mice show a small (5%) but significant shift towards increased head/neck postures than in single Cacna1atg homozygotes

muscle
• mice exhibit dystonia that is more severe than in single Cacna1atg homozygotes
• more than 95% of abnormal movements are either tonic or clonic
• mice show a small (5%) but significant shift towards increased head/neck postures than in single Cacna1atg homozygotes




Genotype
MGI:5308944
cn14
Allelic
Composition
Sgcetm2.1Ygl/Sgce+
Tg(Pcp2-cre)2Mpin/0
Genetic
Background
involves: 129S1/Sv * 129S2/SvPas * 129S4/SvJaeSor * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sgcetm2.1Ygl mutation (0 available); any Sgce mutation (45 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
N
• when the allele is inherited paternally, mice exhibit normal posture, righting response, motor coordination and balance
• when the allele is inherited paternally, mice do not exhibit significant myoclonus
• when the allele is inherited paternally, mice exhibit impaired motor learning on a beam-walking test compared with control mice
• activity, movement number and movement time when the allele is inherited paternally

nervous system
N
• when the allele is inherited paternally, Purkinje cells exhibit normal nuclear envelops




Genotype
MGI:5705339
cn15
Allelic
Composition
Slit2tm1.1Ics/Slit2tm1.1Ics
Tg(Pcp2-cre)2Mpin/?
Genetic
Background
involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * C57BL/6 * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slit2tm1.1Ics mutation (0 available); any Slit2 mutation (59 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• brain injections of rAAV8 virus expressing cre
• increase in overlaps of Purkinji Cell dendritic branches




Genotype
MGI:4949731
cn16
Allelic
Composition
Cacna1atm1.1Sher/Cacna1atm1.1Sher
Tg(Pcp2-cre)2Mpin/0
Genetic
Background
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cacna1atm1.1Sher mutation (0 available); any Cacna1a mutation (85 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• dyskinesis is induced by stress or chemicals, such as a new environment, cage transport, short restraint, or administration of caffeine and alcohol
• mice exhibit sustained axial dystonia and repetitive clonic limb movements unlike wild-type mice
• mice exhibit stereotyped 6 to 7 spikes per second generalized spike-wave seizure discharges unlike wild-type mice
• at P21, only 2 of 30 cells exhibit spontaneous action potential activity compared with wild-type cells
• at P48, Purkinje cells lack spontaneous action potential firing unlike wild-type cells
• omegaAgalVA-treatment fails to reduced inhibitory postsynaptic current (IPSC) amplitudes unlike similarly treated wild-type mice
• however, response to omega CtxGVIA is normal
• Purkinje cells exhibit reduced P/Q-type channel current density compared with wild-type cells

behavior/neurological
• mild to severe after 2 weeks of age
• mice perform extremely poorly on a rotarod compared with wild-type mice
• mice exhibit impaired performance in incline and pole tests compared with wild-type mice
• mice exhibit impaired coordination of forepaw grip compared with wild-type mice
• dyskinesis is induced by stress or chemicals, such as a new environment, cage transport, short restraint, or administration of caffeine and alcohol
• mice exhibit sustained axial dystonia and repetitive clonic limb movements unlike wild-type mice
• mice exhibit stereotyped 6 to 7 spikes per second generalized spike-wave seizure discharges unlike wild-type mice

growth/size/body
• worsening with age




Genotype
MGI:5641483
cn17
Allelic
Composition
Tsc1tm1Djk/Tsc1tm1Djk
Tg(Pcp2-cre)2Mpin/0
Genetic
Background
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * BALB/cJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Pcp2-cre)2Mpin mutation (1 available)
Tsc1tm1Djk mutation (1 available); any Tsc1 mutation (53 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mice exhibit similar acquisition learning of a submerged escape-platform location compared to controls, however when the escape platform location is reversed, mutants show impaired learning of the new platform location
• rapamycin treatment prevents the reversal learning impairment
• mice show reduced investigation of social odors compared with controls, suggesting impaired discrimination of social olfactory cues
• however, mice show normal investigation of non-social olfactory cues
• increase in self-grooming rates
• mutants show initial signs of ataxia at 7-8 weeks of age which progresses with age
• mice show decreased stride length and increased stride width at 4 months of age
• rapamycin treated mutants do not show ataxic gait
• mutants show impaired motor learning on the accelerating rotarod test before ataxia onset
• treatment with rapamycin prevents the motor phenotypes
• mice show impaired male-female social interactions, with reductions in the time that mice spend interacting compared to controls
• in a 3-chambered assay of social approach and preference for social novelty, mice show social impairments, showing no differences between the time spend in the chamber or in interaction with the novel mouse versus the novel object
• in a social novelty paradigm, mice show no preference for social novelty
• treatment with rapamycin results in normal social behavior
• P5-P12 pups show increased vocalizations

nervous system
• treatment with rapamycin starting at P7 prevents the Purkinje cell defects
• cerebellar Purkinje cell layer is abnormal with increased soma area and reduced Purkinje cell numbers
• Purkinje cell soma area is increased at 4 weeks of age
• markers for endoplasmic reticulum and oxidative stress are elevated indicating elevated neuronal stress of Purkinje cells
• Purkinje cells display abnormal axonal projections with numerous protrusions and abnormal collateralization
• increase in spine density on Purkinje cell dendrites
• decrease in Purkinje cell numbers are first seen at 2 months of age, with a further reduction at 4 months
• an increase in Purkinje cell apoptosis is seen at 7-8 weeks of age
• Purkinje cell excitability is reduced, with Purkinje cells showing lower, graded spontaneous spiking rate, and current injection evokes fewer action potentials in Purkinje cells
• injection of small hyperpolarizing currents results in smaller voltage changes in Purkinje cells, indicating a decrease in the effective input resistance
• despite receiving normal functioning synaptic inputs, the output of the cerebellar cortex is reduced, both tonically and in response to incoming excitatory drive
• however, alterations in synaptic transmission are not apparent in mutants

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autism spectrum disorder DOID:0060041 J:186699




Genotype
MGI:5641482
cn18
Allelic
Composition
Tsc1tm1Djk/Tsc1+
Tg(Pcp2-cre)2Mpin/0
Genetic
Background
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * BALB/cJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Pcp2-cre)2Mpin mutation (1 available)
Tsc1tm1Djk mutation (1 available); any Tsc1 mutation (53 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mice show reduced investigation of social odors compared with controls, suggesting impaired discrimination of social olfactory cues
• however, mice show normal investigation of non-social olfactory cues
• increase in self-grooming rates
• mice show impaired male-female social interactions, with reductions in the time that mice spend interacting compared to controls
• in a 3-chambered assay of social approach and preference for social novelty, mice exhibit social impairments, showing no differences between the time spend in the chamber or in interaction with the novel mouse versus the novel object unlike controls
• in a social novelty paradigm, mice show no preference for social novelty
• P5-P12 pups show increased vocalizations

nervous system
• increase in spine density on Purkinje cell dendrites
• Purkinje cell excitability is reduced, with Purkinje cells showing lower, graded spontaneous spiking rate, and current injection evokes fewer action potentials in Purkinje cells
• injection of small hyperpolarizing currents results in smaller voltage changes in Purkinje cells, indicating a decrease in the effective input resistance
• despite receiving normal functioning synaptic inputs, the output of the cerebellar cortex is reduced, both tonically and in response to incoming excitatory drive




Genotype
MGI:4412292
cn19
Allelic
Composition
Gt(ROSA)26Sortm7(CAG-mCherry,-EGFP/tetX)Dym/Gt(ROSA)26Sor+
Tg(ACTFLPe)9205Dym/0
Tg(Pcp2-cre)2Mpin/0
Genetic
Background
involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm7(CAG-mCherry,-EGFP/tetX)Dym mutation (0 available); any Gt(ROSA)26Sor mutation (745 available)
Tg(ACTFLPe)9205Dym mutation (5 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mild tremors during motion




Genotype
MGI:5509153
cn20
Allelic
Composition
Stxbp1tm1Mver/Stxbp1tm1Mver
Tg(Pcp2-cre)2Mpin/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Stxbp1tm1Mver mutation (0 available); any Stxbp1 mutation (28 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• severe by 8 weeks

nervous system
• Purkinje cell bodies are absent from the cerebellum




Genotype
MGI:3604219
cn21
Allelic
Composition
Fmr1tm1.1Cidz/Fmr1tm1.1Cidz
Tg(Pcp2-cre)2Mpin/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fmr1tm1.1Cidz mutation (0 available); any Fmr1 mutation (28 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• the percentage, amplitude, and velocity of conditioned responses were reduced in the 3rd and 4th training sessions; however the startle response was normal

nervous system
• the length of Purkinje cell spine heads and necks is increased
• induction of long term depression in Purkinje cells is significantly enhanced when stimulating parallel fibers

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
fragile X syndrome DOID:14261 OMIM:300624
J:101021




Genotype
MGI:3848703
cn22
Allelic
Composition
Calb1tm2.1Mpin/Calb1tm2.1Mpin
Tg(Pcp2-cre)2Mpin/?
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Calb1tm2.1Mpin mutation (2 available); any Calb1 mutation (21 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• reduced gain of the optokinetic reflex at all stimulus frequencies tested
• however, the phase values do not differ from controls
• reduced gain of the vestibuloocular reflex in the light at all stimulus frequencies tested
• however, the phase values do not differ from controls and no difference was detected in this reflex in the dark
• increase in the number of foot slips in a runway test even after prolonged training
• impaired ability to stay on a stationary bar

nervous system
N
• despite loss of expression in Purkinje cells no defect in long term depression is detected
• following single shock parallel fiber activation early synaptic calcium transients are 2 to 3 times larger and their decay constants are 3 to 4 times shorter compared to controls
• following single shock activation of climbing fibers the amplitude of fast synaptic calcium transients is increased by about 80% and the decay time constant is reduced by greater than 50%

hearing/vestibular/ear
• reduced gain of the vestibuloocular reflex in the light at all stimulus frequencies tested
• however, the phase values do not differ from controls and no difference was detected in this reflex in the dark




Genotype
MGI:3842577
cn23
Allelic
Composition
Use1tm1.1Aha/Use1tm1.2Aha
Tg(Pcp2-cre)2Mpin/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Pcp2-cre)2Mpin mutation (1 available)
Use1tm1.1Aha mutation (1 available); any Use1 mutation (15 available)
Use1tm1.2Aha mutation (1 available); any Use1 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• display cerebellar ataxia after 10 weeks of age
• after 10 weeks of age

nervous system




Genotype
MGI:5476801
cn24
Allelic
Composition
Afg3l2tm1Arte/Afg3l2tm1Arte
Tg(Pcp2-cre)2Mpin/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Afg3l2tm1Arte mutation (0 available); any Afg3l2 mutation (57 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Purkinje cell degeneration in Afg3l2tm1Arte/Afg3l2tm1Arte Tg(Pcp2-cre)2Mpin/0 mice

nervous system
• progressive
• impaired in Purkinje cells
• at 4 weeks, Purkinje cells have swollen mitochondria with disrupted cristae unlike control cells
• progressive
• disappearance of almost all neurons at 12 weeks
• however, normal numbers at 4 weeks
• postnatal and progressive
• loss observed at 6 weeks and progresses over time

behavior/neurological
• unsteady at 8 weeks

cellular

immune system
• progressive

hematopoietic system
• progressive




Genotype
MGI:5315752
cn25
Allelic
Composition
Slc12a5tm2.1Tjj/Slc12a5tm2.1Tjj
Tg(Pcp2-cre)2Mpin/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc12a5tm2.1Tjj mutation (0 available); any Slc12a5 mutation (30 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• mice exhibit normal cerebellar histology, synaptic morphology and synaptic function
• chloride ion concentration is increased 2-fold compared to in wild-type mice
• GABA-induced hyperpolarization in Purkinje cells is nearly abolished compared to in wild-type cells
• regularity of Purkinje cell firing is reduced compared to in wild-type cells
• regularity of Purkinje cell firing is reduced compared to in wild-type cells
• GABA-induced hyperpolarization in Purkinje cells is nearly abolished compared to in wild-type cells

behavior/neurological
• mice exhibit impairment in vestibuloocular reflex in the dark decrease learning and dark, gain consolidation compared with wild-type mice
• in a long-term vestibuloocular reflex in the dark phase reversal training paradigm, mice are unable to reverse the phase of their eye movements unlike wild-type mice
• mice exhibit impairment in vestibuloocular reflex in the dark decrease learning and dark, gain consolidation compared with wild-type mice
• mice exhibit decreased gain in optokinetic reflex compared with wild-type mice

vision/eye
N
• mice exhibit normal retina function in vestibuloocular reflex adaptation




Genotype
MGI:5315755
cn26
Allelic
Composition
Slc12a6tm1.1Tjj/Slc12a6tm1.1Tjj
Tg(Pcp2-cre)2Mpin/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc12a6tm1.1Tjj mutation (0 available); any Slc12a6 mutation (96 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• mice exhibit normal GABA-induced chloride ion currents




Genotype
MGI:5476802
cn27
Allelic
Composition
Afg3l2tm1Arte/Afg3l2tm1Arte
Gt(ROSA)26Sortm1Lrsn/Gt(ROSA)26Sor+
Tg(Pcp2-cre)2Mpin/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Afg3l2tm1Arte mutation (0 available); any Afg3l2 mutation (57 available)
Gt(ROSA)26Sortm1Lrsn mutation (1 available); any Gt(ROSA)26Sor mutation (745 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Abnormal mitochondrial network in Afg3l2tm1Arte/Afg3l2tm1Arte Tg(Pcp2-cre)2Mpin/0 Gt(ROSA)26Sortm1Lrsn/Gt(ROSA)26Sor+ mice

nervous system
• at 4 weeks, Purkinje cells exhibit fragmentation of mitochondria unlike control cells
• at 6 weeks, mitochondrial fragmentation is very pronounced
• Purkinje cell electrophysiological properties are normal at 4 to 5 weeks of age




Genotype
MGI:5897352
cn28
Allelic
Composition
Slc26a11tm1.1Cidz/Slc26a11tm1.1Cidz
Tg(Pcp2-cre)2Mpin/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc26a11tm1.1Cidz mutation (0 available); any Slc26a11 mutation (14 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• in vitro, spontaneous action potential firing frequency is significantly higher than that in control Purkinje cells when the inhibitory input is present; firing frequency of Purkinje cells remains significantly higher when both inhibitory and excitatory inputs are blocked in the presence of the GABAAR-blocker picrotoxin
• in vivo recordings showed a significant increase in simple spike firing frequency of Purkinje cells relative to those in wild-type mice
• however, both the level of regularity of simple spike firing and complex spike frequency remain normal
• the amplitude of afterhyperpolarization is significantly smaller than that in control Purkinje cells
• following application of the GABAAR agonist muscimol to proximal dendrites of Purkinje cells, the reversal potential of GABAA-current (EGABA) is significantly more hyperpolarized than in control Purkinje cells, as shown by a negative shift in EGABA
• however, the resting membrane potential is not significantly altered in Purkinje cells
• the frequency of spontaneous inhibitory postsynaptic currents (sIPSCs) is significantly higher than that in control Purkinje cells
• no differences are noted in the maximum amplitude or in the rise and decay time of sIPSCs relative to control cells
• in vitro cell-attached recordings of molecular layer interneurons revealed normal firing frequency in presynaptic interneurons

homeostasis/metabolism
• perforated patch clamp recordings of Purkinje cells revealed a negative shift in the reversal potential of chloride as reflected in the GABAA-receptor evoked currents, indicating a decrease in intracellular chloride concentration; on average, [Cl-]i is 35% lower than that in control Purkinje cells

behavior/neurological
N
• mice exhibit no detectable differences during performance or adaptation of compensatory eye movements relative to control mice
• in the Erasmus Ladder paradigm, mice exhibit a significantly higher number of steps per session during both perturbed and non-perturbed (baseline) sessions
• mice show a higher % of small steps and a lower % of large steps than wild-type mice in all sessions
• however, the average step time is not significantly altered




Genotype
MGI:3723058
cn29
Allelic
Composition
Gabrg2tm1Wul/Gabrg2tm1Wul
Tg(Pcp2-cre)2Mpin/?
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gabrg2tm1Wul mutation (1 available); any Gabrg2 mutation (27 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
N
• mice have no motor disabilities, no ataxia or tremor and performed normally on a rotarod test
• mice are resistant to zolpidem induced sedative and ataxic effects

nervous system
• miniature inhibitory postsynaptic currents are absent from all Purkinje cells




Genotype
MGI:5705334
cn30
Allelic
Composition
Robo2tm1Rilm/Robo2tm1Rilm
Tg(Pcp2-cre)2Mpin/?
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Robo2tm1Rilm mutation (1 available); any Robo2 mutation (68 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• extensive overlaps of Purkinje cell dendritic branches
• dendrites otherwise normal




Genotype
MGI:3757963
cn31
Allelic
Composition
Gabrg2tm1Wul/Gabrg2tm1Wul
Tg(Pcp2-cre)2Mpin/?
Tg(Pcp2-EGFP/Gabrg2)1Wul/?
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gabrg2tm1Wul mutation (1 available); any Gabrg2 mutation (27 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
Tg(Pcp2-EGFP/Gabrg2)1Wul mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• treatment with zolpiderm does not produce sedation or overt ataxia
• sensitivity to zolpidem is only restored in Purkinje cells
• following treatment with 3 mg/kg of zolpidem, mice exhibit reduced ability to stay on a rotating rod
• following treatment with zolpidem, mice need more time to cross a hanging beam than do untreated mice
• however, untreated mice have no motor disabilities, no ataxia or tremor and performed normally on a rotarod test and pre-treatment with flumazenil blocks the effects of zolpiderm

nervous system
• mice treated with zolpidem exhibit a raise the amplitude and increase the charge of miniature inhibitory postsynaptic currents (mIPSCs) indicating a restoration of zolpiderm-sensitivity but only in Purkinje cells
• due to mosaic expression of the transgene in female mice with integration into the X chromosome, some mice exhibit a lack of mIPSCsdue to mosaic expression of the transgene in female mice with integration into the X chromosome, some mice exhibit a lack of mIPSCs
• however, in GFP+ cells normal zolpidem-sensitivity is restored




Genotype
MGI:5140838
cn32
Allelic
Composition
Tg(Pcp2-cre)2Mpin/0
Tsc2tm1.1Mjg/Tsc2tm1.2Mjg
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Pcp2-cre)2Mpin mutation (1 available)
Tsc2tm1.1Mjg mutation (1 available); any Tsc2 mutation (48 available)
Tsc2tm1.2Mjg mutation (0 available); any Tsc2 mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 10% of mutants exhibit spontaneous deaths before weaning; cause of death is unknown

nervous system
• some mutants exhibit seizures
• Purkinje cells are larger than in wild-type mice
• mutants exhibit Purkinje cell loss beginning at one month of age which becomes progressively more pronounced over time
• by 7 months of age, mutants lose more Purkinje cells than Tsc2tm1.1Mjg/Tsc2tm1.1Mjg Tg(Pcp2-cre)2Mpin/0 mice

behavior/neurological
• some mutants exhibit seizures

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
tuberous sclerosis DOID:13515 OMIM:PS191100
J:174327




Genotype
MGI:5816914
cn33
Allelic
Composition
Shank2tm1.1Bcgen/Shank2tm1.1Bcgen
Tg(Pcp2-cre)2Mpin/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Shank2tm1.1Bcgen mutation (0 available); any Shank2 mutation (56 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mice show mildly increased anxiety-like behavior in the light-dark test
• however, mice show normal behavior in the elevated plus maze and in the center region of the open-field arena
• mice show impaired motor coordination in the Erasmus ladder test
• however, mice do not show any abnormalities in social interaction, social novelty recognition, ultrasonic vocalization, repetitive behaviors (self-grooming, jumping, digging, and marble burying), in the rotarod test, and open-field behavior and show normal visual and olfactory function
• mice show increased repetitive behavior in the hole-board test

nervous system
• reduction in levels of excitatory synaptic protein (GluD2 and PSD-93) levels in the cerebellum
• Purkinje cells show miniature excitatory postsynaptic currents (mEPSCs) with reduced frequency but normal amplitude
• however, mice show normal LTD at parallel fibers-Purkinje cell synapses in the cerebellum




Genotype
MGI:5140843
cn34
Allelic
Composition
Tg(Pcp2-cre)2Mpin/0
Tsc2tm1.1Mjg/Tsc2tm1.1Mjg
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Pcp2-cre)2Mpin mutation (1 available)
Tsc2tm1.1Mjg mutation (1 available); any Tsc2 mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mutants are ataxic at 3 months of age
• treatment of mutants with rapamycin rescues the ataxic gait
• mutants exhibit rotarod defects, falling off the rotarod sooner than controls
• mutants take wider steps than control mice

nervous system
• Purkinje cells exhibit apoptotic cell death and increased ER and oxidative stress
• treatment of mutants with rapamycin rescues Purkinje cell death and alleviates ER stress
• mutants progressively lose Purkinje cells beginning at one month of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
tuberous sclerosis DOID:13515 OMIM:PS191100
J:174327




Genotype
MGI:6488227
cn35
Allelic
Composition
Btbd9tm1c(EUCOMM)Wtsi/Btbd9tm1c(EUCOMM)Wtsi
Tg(Pcp2-cre)2Mpin/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Btbd9tm1c(EUCOMM)Wtsi mutation (0 available); any Btbd9 mutation (40 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mice exhibit an increase in voluntary activity level in the wheel-running test during the light phase, but no change during the dark phase; activity is especially high at 9 am and especially low during the 1st half of the active phase
• mice exhibit an increase in activity level during the rest (light) phase and during the active (dark) phase in the continuous open field
• however, mice show no difference in the latency to withdraw from the heat stimuli in the tail-flick test
• analysis of sleep-like behaviors indicates an increase in probability of waking in the rest phase, especially at 7 am, 8 am and the 2nd half of the rest phase, but not in the active phase

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
restless legs syndrome DOID:0050425 OMIM:PS102300
J:298663




Genotype
MGI:5896612
cn36
Allelic
Composition
Adgrb2tm1Yazu/Adgrb2tm1Yazu
Tg(Pcp2-cre)2Mpin/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Adgrb2tm1Yazu mutation (0 available); any Adgrb2 mutation (39 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• mice exhibit normal amount and distribution of vGluT2 immunoreactivity




Genotype
MGI:6393522
cn37
Allelic
Composition
Mcutm1c(EUCOMM)Hmgu/Mcutm1c(EUCOMM)Hmgu
Tg(Pcp2-cre)2Mpin/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mcutm1c(EUCOMM)Hmgu mutation (2 available); any Mcu mutation (24 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• reduced calcium buffering capacity in Purkinje cell mitochondria




Genotype
MGI:5896611
cn38
Allelic
Composition
Adgrb3tm1Ksak/Adgrb3tm1Ksak
Tg(Pcp2-cre)2Mpin/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Adgrb3tm1Ksak mutation (0 available); any Adgrb3 mutation (55 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• normal cerebellar foliation and lamination of cortical structures
• reduced number of vGluT2+ puncta in the cerebella
• climbing fiber terminals penetrate to a shallower depth than in wild-type mice
• however, transforming Purkinje cells with a wild-type form of the gene re-establishes climbing fiber synapse elimination
• reduced complex spikes from Purkinje cells
• reduced climbing fiber-evoked afterhyperpolarization and suppression of spontaneous spikes
• whole-cell patch-clamp recordings show reduced one-to-one relationship of Purkinje cells with climbing fibers and smaller amplitude of strongest climbing fiber excitatory postsynaptic currents
• however, transforming Purkinje cells with a wild-type form (but not one lacking a domain required for interaction with C1ql1) of the gene re-establishes increases amplitude of strongest climbing fiber excitatory postsynaptic currents
• simultaneously activating parallel fibers and climbing fibers for 2 min at 1 Hz in the current-clamp mode fails to develop long term depression

behavior/neurological
N
• mice exhibit no ataxia and normal motor coordination on the rotor-rod test
• severely impaired adaptation of the horizontal optokinetic response
• however, horizontal optokinetic response prior to training is normal




Genotype
MGI:5754962
cn39
Allelic
Composition
Nlgn2tm1.1Sud/Nlgn2tm1.1Sud
Nlgn3tm4.1Sud/Y
Tg(Pcp2-cre)2Mpin/?
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6NTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nlgn2tm1.1Sud mutation (1 available); any Nlgn2 mutation (24 available)
Nlgn3tm4.1Sud mutation (0 available); any Nlgn3 mutation (22 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• no change in parallel fiber synpatic transmission
• slight decrease in climbing-fiber synapse (vGluT2 staining) cluster density and size
• decrease in climbing-fiber EPSC amplitude, but no change in quantal events
• large decrease in frequency (90%) and amplitude (45%) of mIPScs




Genotype
MGI:5754963
cn40
Allelic
Composition
Nlgn1tm1.1Sud/Nlgn1tm1.1Sud
Nlgn2tm1.1Sud/Nlgn2tm1.1Sud
Nlgn3tm4.1Sud/Y
Tg(Pcp2-cre)2Mpin/?
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6NTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nlgn1tm1.1Sud mutation (0 available); any Nlgn1 mutation (41 available)
Nlgn2tm1.1Sud mutation (1 available); any Nlgn2 mutation (24 available)
Nlgn3tm4.1Sud mutation (0 available); any Nlgn3 mutation (22 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• bouton size is reduced
• 50% decrease in density of climbing fiber synapse on distal Purkinje cell dendrites
• 15% decrease in density of climbing fiber synapse on proximal Purkinje cell dendrites
• inhibitory basket/stellate cell synapses are increased in size, but not number
• 25% decrease in size of climbing fiber synapse on distal and proximal Purkinje cell dendrites
• increase in puncta density as detected by GAD65
• parallel fiber synapse density is not altered
• decreased frequency of delayed quantal release events, but not amplitude events
• impaired synaptic transmission at GABAergic synapses
• 40% decrease in amplitude of climbing fiber EPSCs in juvenile and adult mice
• however, no change in kinetics or paired pulse ratio of climbing fiber EPSCs and no alterations in parallel-fiber EPSCs
• 80% decrease in IPSC amplitude in Purkinje cells, but no changes in kinetics or paired pulse ratio
• 80% decrease in mIPSC frequency and amplitude (45%) in basket/stellate cell synapses
• decrease in decay, but not rise times of mIPSCs




Genotype
MGI:5754948
cn41
Allelic
Composition
Nlgn1tm1.1Sud/Nlgn1tm1.1Sud
Nlgn3tm4.1Sud/Y
Tg(Pcp2-cre)2Mpin/?
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6NTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nlgn1tm1.1Sud mutation (0 available); any Nlgn1 mutation (41 available)
Nlgn3tm4.1Sud mutation (0 available); any Nlgn3 mutation (22 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• no change in parallel fiber synpatic transmission
• no change in basket/stellate cell synapse-mediated mIPSCs
• 5% loss of distal climbing-fiber synapse numbers
• 25% decrease in synapse size
• modest decrease (10%) in climbing fiber synapse EPSC amplitude
• no change in paired pulse ratio is detected or synapse elimination




Genotype
MGI:5754949
cn42
Allelic
Composition
Nlgn1tm1.1Sud/Nlgn1tm1.1Sud
Tg(Pcp2-cre)2Mpin/?
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6NTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nlgn1tm1.1Sud mutation (0 available); any Nlgn1 mutation (41 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• no change in parallel fiber synpatic transmission
• no change in basket/stellate cell synapse-mediated mIPSCs
• modest decrease (10%) in climbing fiber synapse EPSC amplitude
• no change in paired pulse ratio is detected




Genotype
MGI:5754960
cn43
Allelic
Composition
Nlgn3tm4.1Sud/Y
Tg(Pcp2-cre)2Mpin/?
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6NTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nlgn3tm4.1Sud mutation (0 available); any Nlgn3 mutation (22 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• no change in parallel fiber synpatic transmission
• no change in basket/stellate cell synapse-mediated mIPSCs
• small decrease in climbing fiber synapse EPSC amplitude
• no change in paired pulse ratio is detected




Genotype
MGI:5754961
cn44
Allelic
Composition
Nlgn2tm1.1Sud/Nlgn2tm1.1Sud
Tg(Pcp2-cre)2Mpin/?
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6NTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nlgn2tm1.1Sud mutation (1 available); any Nlgn2 mutation (24 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• no change in density, distribution or size of excitatory climbing-fiber synapses or inhibitory basket/stellate cell synapses
• 25% increase in climbing fiber synapse EPSC amplitude
• 50% reduction in IPSC amplitude
• 67% decrease in spontaneous mIPSC frequency, but no change in amplitude or kinetics




Genotype
MGI:5660862
cn45
Allelic
Composition
Nlgn3tm4.1Sud/Y
Tg(Pcp2-cre)2Mpin/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nlgn3tm4.1Sud mutation (0 available); any Nlgn3 mutation (22 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mice are hyperactive during open-field tests, showing increased total distance traveled and increased number of ambulatory episodes
• however, mice exhibit normal performance on the rotarod




Genotype
MGI:3832543
cn46
Allelic
Composition
Rad50tm1Jpt/Rad50tm3Jpt
Tg(Pcp2-cre)2Mpin/0
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rad50tm1Jpt mutation (1 available); any Rad50 mutation (34 available)
Rad50tm3Jpt mutation (1 available); any Rad50 mutation (34 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• minor

nervous system
N
• mice exhibit normal nervous system morphology with no increase in DNA damage




Genotype
MGI:5532284
cn47
Allelic
Composition
Itpr1tm1.1Kmik/Itpr1tm1.1Kmik
Tg(Pcp2-cre)2Mpin/0
Genetic
Background
involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Itpr1tm1.1Kmik mutation (3 available); any Itpr1 mutation (129 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• born at expected Mendelian ratios
• survive to adulthood

behavior/neurological
N
• no seizure-like movements
• cerebellar ataxia beginning around 6 weeks of age
• worsens over time
• smaller amplitude of horizontal optico kinetic reflex gain but timing is normal
• no adaptive increase in horizontal optico kinetic reflex gain at 10 weeks after 1 hour of exposure to screen oscillations

nervous system
N
• cerebellar morphology is more or less normal
• climbing fiber distribution is normal at 10 weeks of age
• no abnormal enlargement of parallel fiber presynaptic terminals
• soma is smaller at 10 weeks of age but no degeneration is apparent
• fewer dendritic branching points
• increased spine density in the distal dendritic region
• thin at 10 weeks of age
• significantly increased parallel fiber EPSP at 10 weeks of age
• induction of long term depression by stimulation of parallel fibers and climbing fibers is blocked
• long term depression by direct depolarization of Purkinje cells is blocked

vision/eye
• smaller amplitude of horizontal optico kinetic reflex gain but timing is normal
• no adaptive increase in horizontal optico kinetic reflex gain at 10 weeks after 1 hour of exposure to screen oscillations




Genotype
MGI:5532285
cn48
Allelic
Composition
Itpr1tm1.1Kmik/Itpr1tm1.1Kmik
Tg(Pcp2-cre)2Mpin/0
Tg(Pcp2-EGFP)2Yuza/0
Genetic
Background
involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Itpr1tm1.1Kmik mutation (3 available); any Itpr1 mutation (129 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
Tg(Pcp2-EGFP)2Yuza mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• percentage of purkinje fibers synapsing with parallel fibers is normal
• distal spine density is 143% of controls
• spine lengths are greater




Genotype
MGI:2680086
cn49
Allelic
Composition
Prkg1tm2Naw/Prkg1tm2Naw
Tg(Pcp2-cre)2Mpin/?
Genetic
Background
involves: 129/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prkg1tm2Naw mutation (0 available); any Prkg1 mutation (41 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• long term depression in the cerebellum is suppressed
• motor coordination as determined by footprint, runway, and rotarod tests was normal
• less vestibulo-occular reflex adaptation than in controls




Genotype
MGI:3531210
tg50
Allelic
Composition
Tg(Pcp2-cre)2Mpin/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• transgenic mice are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities





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last database update
01/18/2022
MGI 6.17
The Jackson Laboratory