Phenotypes Associated with This Genotype

Genotype
MGI:4950072

• Allelic Composition: Scn1a^tm1.1Aesc/Scn1a⁺; Tg(Eno2-Scn2a1*)Q54Mm/0
• Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6J * SJL/J

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

behavior/neurological

convulsive seizures ( J:170734 )

• 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

tonic-clonic seizures ( J:170734 )

• mutants begin to exhibit generalized tonic-clonic seizures at P16

mortality/aging

postnatal lethality, complete penetrance ( J:170734 )

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

nervous system

convulsive seizures ( J:170734 )

• 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

tonic-clonic seizures ( J:170734 )

• mutants begin to exhibit generalized tonic-clonic seizures at P16

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