Phenotypes Associated with This Genotype

Genotype
MGI:3840657

• Allelic Composition: Scn8a^8J/Scn8a⁺
• Genetic Background: involves: C3HeB/FeJ * C57BL/6J

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

behavior/neurological

abnormal spike wave discharge ( J:147199 )

• mice exhibit robust spike wave discharge (SWD) with high amplitude, significant duration, high frequency, and a burst frequency of 7 to 9 Hz

• SWD occurs between periods of locomotor activity and cause immobility except for occasional whisker twitching

• the average incidence of SWD is higher Scn8a^med heterozygotes

• ethosuximide treatment results in 6-fold fewer and shorter SWD

• the number of SWD per hour decreases with additional crosses to C57BL/6 mice

• mice exhibit fewer SWD compared to homozygous mice

nervous system

abnormal spike wave discharge ( J:147199 )

• mice exhibit robust spike wave discharge (SWD) with high amplitude, significant duration, high frequency, and a burst frequency of 7 to 9 Hz

• SWD occurs between periods of locomotor activity and cause immobility except for occasional whisker twitching

• the average incidence of SWD is higher Scn8a^med heterozygotes

• ethosuximide treatment results in 6-fold fewer and shorter SWD

• the number of SWD per hour decreases with additional crosses to C57BL/6 mice

• mice exhibit fewer SWD compared to homozygous mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
epilepsy		DOID:1826		J:147199 , J:212131