Phenotypes Associated with This Genotype

Genotype
MGI:3818175

• Allelic Composition: Scn1a^tm1Wac/Scn1a⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/NJ

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

mortality/aging

premature death ( J:129998 )

• 40% of mice die by P50 and 100% of mice by P125

nervous system

increased susceptibility to pharmacologically induced seizures ( J:129998 )

• following exposure to flurothyl, 63% of mice exhibit generalized tonic-clonic seizure with reduced latency compared to 9% of similarly treated wild-type mice

tonic-clonic seizures ( J:129998 )

• mice exhibit spontaneous tonic-clonic seizures

abnormal spike wave discharge ( J:129998 )

• mice exhibit ictal polyspike activity accompanied by stereotypic behavior unlike wild-type mice

behavior/neurological

increased susceptibility to pharmacologically induced seizures ( J:129998 )

• following exposure to flurothyl, 63% of mice exhibit generalized tonic-clonic seizure with reduced latency compared to 9% of similarly treated wild-type mice

tonic-clonic seizures ( J:129998 )

• mice exhibit spontaneous tonic-clonic seizures

abnormal spike wave discharge ( J:129998 )

• mice exhibit ictal polyspike activity accompanied by stereotypic behavior unlike wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Dravet syndrome		DOID:0080422	OMIM:607208	J:129998