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Phenotypes Associated with This Genotype
Genotype
MGI:4950073
Allelic
Composition
Kcnq2Nmf134/Kcnq2+
Scn1atm1.1Aesc/Scn1a+
Genetic
Background
involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kcnq2Nmf134 mutation (1 available); any Kcnq2 mutation (16 available)
Scn1atm1.1Aesc mutation (0 available); any Scn1a mutation (49 available)
phenotype observed in females
phenotype observed in males
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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory