Phenotypes Associated with This Genotype

Genotype
MGI:4950073

• Allelic Composition: Kcnq2^Nmf134/Kcnq2⁺; Scn1a^tm1.1Aesc/Scn1a⁺
• Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

behavior/neurological

convulsive seizures ( J:170734 )

• 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

tonic-clonic seizures ( J:170734 )

• mutants show a few generalized tonic-clonic seizures

mortality/aging

decreased survivor rate ( J:170734 )

• 47% of mutants survive for more than 100 days

postnatal lethality, incomplete penetrance ( J:170734 )

• sporadic death begins to occur at P19, with 42% mortality by P25

nervous system

convulsive seizures ( J:170734 )

• 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

tonic-clonic seizures ( J:170734 )

• mutants show a few generalized tonic-clonic seizures

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
generalized epilepsy with febrile seizures plus		DOID:0060170		J:170734