Mouse Genome Informatics
cn1
    Arxtm1Gldn/Y
Tg(mI56i-cre,EGFP)1Kc/0

involves: 129/Sv * C57BL/6 * CD-1 * FVB/N
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• fewer than the expected number of male offspring are recovered from litters from crosses between cre-expressing males and Arxtm1Gldn females
• a siginificant number of mutant males die early in the postnatal period

behavior/neurological
• some mice display seizures characterized by whole body flexion or extension movements resembling epileptic spasms
• some mice display arrest of acitivity/freezing seizures
• all adult mice develop spontaneous brief seizures
• all P14-17 mice demonstrate spontaneous seizures consisting of body arching with forelimb clonus and rearing

nervous system
N
• no brain weight or gross morphological differences are detected in adult or P14-17 animals compared to controls
• some mice display seizures characterized by whole body flexion or extension movements resembling epileptic spasms
• some mice display arrest of acitivity/freezing seizures
• all adult mice develop spontaneous brief seizures
• all P14-17 mice demonstrate spontaneous seizures consisting of body arching with forelimb clonus and rearing
• a prominent reduction in calbindin-labeled neurons in the neocortex compared to controls in the hippocampus, pattern of staining of interneurons is altered from cell body staining to mainly staining interneuron processes
• smaller reductions are observed in numbers and distribution of calretinin-labeled neurons compared to controls
• in P90-120 day-old mice, EEG is disrupted compared to controls; mice display pattern of moderate to higher amplitude and faster frequency activity
• abnormal activity is more apparent in the hippocampal rather than cortical electrodes
• adult animals show a lack of normal 4-7 Hz rhythmic theta activity while awake; hippocampal theta activity is rarely recorded, but when present has faster activity superimposed on the normal theta
• while sleeping, a lack of normal delta power and rhythmic delta activity seen in controls
• mice have a decrease in delta activity and an increase in faster frequency activity
• P14-17 animals display EEGs with slower background with lower voltage than mature controls; one animal showed infrequent large amplitude spikes

Mouse Models of Human Disease
OMIM IDRef(s)
Epileptic Encephalopathy, Early Infantile, 1; EIEE1 308350 J:148311


Mouse Genome Informatics
cn2
    Arxtm1Gldn/Arx+
Tg(mI56i-cre,EGFP)1Kc/0

involves: 129/Sv * C57BL/6 * CD-1 * FVB/N
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• some adult mice develop convulsive Racine stage 5 seizures
• some adult mice display epileptic spasm seizures
• some adult mice display arrest of acitivity/freezing seizures
• about half of adult female mice develop spontaneous brief seizures of various types
• P14-17 mice develop seizures at a similar rate to adult females; no epileptic spasm seizures are recorded in mice at this ages

nervous system
N
• no brain weight or gross morphological differences are detected in adult or P14-17 animals compared to controls
• some adult mice develop convulsive Racine stage 5 seizures
• some adult mice display epileptic spasm seizures
• some adult mice display arrest of acitivity/freezing seizures
• about half of adult female mice develop spontaneous brief seizures of various types
• P14-17 mice develop seizures at a similar rate to adult females; no epileptic spasm seizures are recorded in mice at this ages
• a prominent reduction in calbindin-labeled neurons in the neocortex compared to controls in the hippocampus, pattern of staining of interneurons is altered from cell body staining to mainly staining interneuron processes
• a significant reduction is observed in numbers and distribution of calretinin-labeled neurons compared to controls
• EEGs of female mice exhibit abnormal background activity; EEG is periodically interrupted by longer runs of higher amplitude, faster rhythms, and demonstrates excessive sharp activity
• females show no decrease in Delta band activity, but do exhibit an increase in faster frequency activity like male mutants

Mouse Models of Human Disease
OMIM IDRef(s)
Epileptic Encephalopathy, Early Infantile, 1; EIEE1 308350 J:148311


Mouse Genome Informatics
cn3
    Mettm1Sst/Mettm1Sst
Tg(mI56i-cre,EGFP)1Kc/0

involves: 129P2/OlaHsd * C57BL/6J * FVB
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
N
• in the Morris water maze, mutants have a longer latency to locate the platform on the first 2 days of training than controls, however performance on the probe test and reversal probe test were normal, indicating normal hippocampal-mediated spatial learning
• open field activity and anxiety are not affected
• on reversal discriminations, mutants require more trials than controls, indicating impaired reversal learning
• mutants show increased latency performance on the cued-platform test, indicating a delay in striatal-dependent cued learning

nervous system
• marker analysis indicates an increase in numbers of PV+ and SST+ striatal GABAergic interneurons
• distribution of striatal interneurons is altered, with fewer cells of the population located in the medial (associative) regions and more cells in the lateral (sensorimotor) areas
• reduction in the numbers of PV+ GABAergic interneurons in the primary somatosensory cortex (28% loss) and the orbitofrontal cortex (31% loss)
• marker analysis indicates an increase in numbers of PV+ and SST+ striatal GABAergic interneurons
• however, striatum appears normal
• 31% reduction in PV+ cells in the orbitofrontal cortex
• 28% loss of PV+ cells in primary somatosensory cortex


Mouse Genome Informatics
cn4
    Celsr3tm1Agof/Celsr3tm2Agof
Tg(mI56i-cre,EGFP)1Kc/0

involves: 129P2/OlaHsd * FVB/N
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• the thalamocortical axons aberrantly run through the pallidum and amygdala
• while corticofugal fibers cross the pallial-subpallial boundary and enter the lateral part of the basal forebrain, they fail to progress and spiral in a disordered manner
• both corticothalamic and thalamocortial axons are abnormal


Mouse Genome Informatics
cn5
    Sp8tm2Smb/Sp8tm2Smb
Tg(mI56i-cre,EGFP)1Kc/?

involves: 129S1/Sv * 129X1/SvJ * Black Swiss * FVB/N
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• most mice do not exhibit exencephaly
• stacked arrangement of glomeruli
• noticably smaller


Mouse Genome Informatics
cn6
    Slc12a2tm1.1Jheb/Slc12a2tm1.1Jheb
Tg(mI56i-cre,EGFP)1Kc/0

involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
N
• no behavioral abnormalities are detected


Mouse Genome Informatics
cn7
    Islr2tm1.1Ddg/Islr2tm2.1Ddg
Tg(mI56i-cre,EGFP)1Kc/0

involves: 129S6/SvEvTac * C57BL/6 * FVB/N * SJL
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• some mice die during the fourth postnatal week

nervous system
• thalamic projections are misrouted into the ventral midbrain and tangled within the hypothalamus and near complete absence of corticofugal and thalamocortical axons that cross the pallial-subpallial boundary unlike in wild-type mice
• at P7, pallium and subpallium are nearly completely disconnected
• disorganized with partially formed rostral part of the tract


Mouse Genome Informatics
cn8
    Smotm2Amc/Smotm2Amc
Tg(mI56i-cre,EGFP)1Kc/?

involves: 129X1/SvJ * FVB/N
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• viable with no gross phenotype
• cortical interneuron profiles are normal


Mouse Genome Informatics
cx9
    Glra2tm1.2Lngu/Y
Tg(mI56i-cre,EGFP)1Kc/0

involves: 129S4/SvJae * C57BL/6J * FVB/N * MF1
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• fewer GFP+ cortical interneurons migrating into the cortical wall at E15.5
• however, only neurons traveling in the subventricular zone migratory stream
• fewer GFP+ cortical interneurons migrating into the cortical wall at E15.5
• however, only neurons traveling in the subventricular zone migratory stream

cellular
• fewer GFP+ cortical interneurons migrating into the cortical wall at E15.5
• however, only neurons traveling in the subventricular zone migratory stream


Mouse Genome Informatics
cx10
    Glra2tm1.2Lngu/Glra2tm1.2Lngu
Tg(mI56i-cre,EGFP)1Kc/0

involves: 129S4/SvJae * C57BL/6J * FVB/N * MF1
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• fewer GFP+ cortical interneurons migrating into the cortical wall at E15.5
• however, only neurons traveling in the subventricular zone migratory stream
• fewer GFP+ cortical interneurons migrating into the cortical wall at E15.5
• however, only neurons traveling in the subventricular zone migratory stream

cellular
• fewer GFP+ cortical interneurons migrating into the cortical wall at E15.5
• however, only neurons traveling in the subventricular zone migratory stream