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 WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 (J:148311)
• a siginificant number of mutant males die early in the postnatal period (J:148311)

behavior/neurological
• some mice display seizures characterized by whole body flexion or extension movements resembling epileptic spasms (J:148311)
• some mice display arrest of acitivity/freezing seizures (J:148311)
• all adult mice develop spontaneous brief seizures (J:148311)
• all P14-17 mice demonstrate spontaneous seizures consisting of body arching with forelimb clonus and rearing (J:148311)

nervous system
N
• no brain weight or gross morphological differences are detected in adult or P14-17 animals compared to controls (J:148311)
• some mice display seizures characterized by whole body flexion or extension movements resembling epileptic spasms (J:148311)
• some mice display arrest of acitivity/freezing seizures (J:148311)
• all adult mice develop spontaneous brief seizures (J:148311)
• all P14-17 mice demonstrate spontaneous seizures consisting of body arching with forelimb clonus and rearing (J:148311)
• 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 (J:148311)
• smaller reductions are observed in numbers and distribution of calretinin-labeled neurons compared to controls (J:148311)
• in P90-120 day-old mice, EEG is disrupted compared to controls; mice display pattern of moderate to higher amplitude and faster frequency activity (J:148311)
• abnormal activity is more apparent in the hippocampal rather than cortical electrodes (J:148311)
• 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 (J:148311)
• while sleeping, a lack of normal delta power and rhythmic delta activity seen in controls (J:148311)
• mice have a decrease in delta activity and an increase in faster frequency activity (J:148311)
• P14-17 animals display EEGs with slower background with lower voltage than mature controls; one animal showed infrequent large amplitude spikes (J:148311)

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 WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
behavior/neurological
• some adult mice develop convulsive Racine stage 5 seizures (J:148311)
• some adult mice display epileptic spasm seizures (J:148311)
• some adult mice display arrest of acitivity/freezing seizures (J:148311)
• about half of adult female mice develop spontaneous brief seizures of various types (J:148311)
• P14-17 mice develop seizures at a similar rate to adult females; no epileptic spasm seizures are recorded in mice at this ages (J:148311)

nervous system
N
• no brain weight or gross morphological differences are detected in adult or P14-17 animals compared to controls (J:148311)
• some adult mice develop convulsive Racine stage 5 seizures (J:148311)
• some adult mice display epileptic spasm seizures (J:148311)
• some adult mice display arrest of acitivity/freezing seizures (J:148311)
• about half of adult female mice develop spontaneous brief seizures of various types (J:148311)
• P14-17 mice develop seizures at a similar rate to adult females; no epileptic spasm seizures are recorded in mice at this ages (J:148311)
• 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 (J:148311)
• a significant reduction is observed in numbers and distribution of calretinin-labeled neurons compared to controls (J:148311)
• 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 (J:148311)
• females show no decrease in Delta band activity, but do exhibit an increase in faster frequency activity like male mutants (J:148311)

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 WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 (J:170554)
• open field activity and anxiety are not affected (J:170554)
• 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 WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
N
• most mice do not exhibit exencephaly (J:107576)
• 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 WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
behavior/neurological
N
• no behavioral abnormalities are detected (J:201156)


Mouse Genome Informatics
cn7
    Smotm2Amc/Smotm2Amc
Tg(mI56i-cre,EGFP)1Kc/?

involves: 129X1/SvJ * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
normal phenotype
• viable with no gross phenotype
• cortical interneuron profiles are normal


Mouse Genome Informatics
cx8
    Glra2tm1.2Lngu/Y
Tg(mI56i-cre,EGFP)1Kc/0

involves: 129S4/SvJae * C57BL/6J * FVB/N * MF1
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• fewer GFP+ cortical interneurons migrating into the cortical wall at E15.5 (J:202763)
• however, only neurons traveling in the subventricular zone migratory stream (J:202763)
• fewer GFP+ cortical interneurons migrating into the cortical wall at E15.5 (J:202763)
• however, only neurons traveling in the subventricular zone migratory stream (J:202763)

cellular
• fewer GFP+ cortical interneurons migrating into the cortical wall at E15.5 (J:202763)
• however, only neurons traveling in the subventricular zone migratory stream (J:202763)


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

involves: 129S4/SvJae * C57BL/6J * FVB/N * MF1
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• fewer GFP+ cortical interneurons migrating into the cortical wall at E15.5 (J:202763)
• however, only neurons traveling in the subventricular zone migratory stream (J:202763)
• fewer GFP+ cortical interneurons migrating into the cortical wall at E15.5 (J:202763)
• however, only neurons traveling in the subventricular zone migratory stream (J:202763)

cellular
• fewer GFP+ cortical interneurons migrating into the cortical wall at E15.5 (J:202763)
• however, only neurons traveling in the subventricular zone migratory stream (J:202763)