Mouse Genome Informatics
cx
    Kcnq2Nmf134/Kcnq2+
Scn1atm1.1Aesc/Scn1a+

involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
behavior/neurological
• mutants begin to display spontaneous generalized seizures starting at P16, most being myoclonic jerks, a few generalized tonic-clonic seizures, and one mouse showing partial motor seizure
• generalized seizures are periodically followed by tonic extension of the hindlimbs
• mutants show a few generalized tonic-clonic seizures

mortality/aging
• 47% of mutants survive for more than 100 days
• sporadic death begins to occur at P19, with 42% mortality by P25

nervous system
• mutants begin to display spontaneous generalized seizures starting at P16, most being myoclonic jerks, a few generalized tonic-clonic seizures, and one mouse showing partial motor seizure
• generalized seizures are periodically followed by tonic extension of the hindlimbs
• mutants show a few generalized tonic-clonic seizures

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