Mouse Genome Informatics
cx
    Scn1atm1.1Aesc/Scn1a+
Tg(Eno2-Scn2a1*)Q54Mm/0

involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6J * SJL/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
behavior/neurological
• mutants begin to exhibit spontaneous partial motor seizures and generalized tonic-clonic seizures at P16
• general seizures last 45-100 seconds, during which time mice experience repetitive jerking of all four limbs and neck, running, and jumping, and tail clonus; seizures often end with tonic hindlimb extension, indicative of a severe seizure
• mutants begin to exhibit generalized tonic-clonic seizures at P16

mortality/aging
• sporadic death begins to occur at P16, with 100% mortality by P24

nervous system
• mutants begin to exhibit spontaneous partial motor seizures and generalized tonic-clonic seizures at P16
• general seizures last 45-100 seconds, during which time mice experience repetitive jerking of all four limbs and neck, running, and jumping, and tail clonus; seizures often end with tonic hindlimb extension, indicative of a severe seizure
• mutants begin to exhibit generalized tonic-clonic seizures at P16

Mouse Models of Human Disease
OMIM IDRef(s)
Generalized Epilepsy with Febrile Seizures Plus, Type 1; GEFSP1 604233 J:170734