Phenotypes associated with this allele

• Allele Symbol: Scn8a^8J
• Allele Name: 8 Jackson
• Allele ID: MGI:3806790
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Scn8a^8J/Scn8a^8J	involves: C3HeB/FeJ * C57BL/6J	MGI:3840656
ht2	Scn8a^8J/Scn8a^+	involves: C3HeB/FeJ * C57BL/6J	MGI:3840657

Genotype
MGI:3840656

hm1

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

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

mortality/aging

premature death ( J:147199 )

• mice survive as long as 7 weeks when kept with dams and fed ground pellets

postnatal lethality ( J:147199 )

• mice do not survive beyond weaning

• however, mice kept with dams and fed ground pellets survive as long as 7 weeks

behavior/neurological

abnormal locomotor behavior ( J:147199 )

• impaired with weak and unsteady gait

abnormal gait ( J:147199 )

• weak and unsteady

abnormal spike wave discharge ( J:147199 )

• mice exhibit higher SWD compared to heterozygous mice

• mice exhibit spike wave discharge (SWD) with a burst frequency of 4 to 5 Hz

growth/size/body

decreased body size ( J:147199 )

nervous system

abnormal spike wave discharge ( J:147199 )

• mice exhibit spike wave discharge (SWD) with a burst frequency of 4 to 5 Hz

• mice exhibit higher SWD compared to heterozygous mice

Genotype
MGI:3840657

ht2

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

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