Phenotypes associated with this allele

• Allele Symbol: Scn8a^9J
• Allele Name: 9 Jackson
• Allele ID: MGI:3838627
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Scn8a^9J/Scn8a^9J	B6J.C-Scn8a^9J/Mm	MGI:5766996
hm2	Scn8a^9J/Scn8a^9J	BALB/cJ-Scn8a^9J/GrsrJ	MGI:5634735
ht3	Scn8a^9J/Scn8a^+	B6J.C-Scn8a^9J/Mm	MGI:5766997

Genotype
MGI:5766996

hm1

• Allelic Composition: Scn8a^9J/Scn8a^9J
• Genetic Background: B6J.C-Scn8a^9J/Mm

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

mortality/aging

premature death ( J:230867 )

• 50% of mice survive beyond 6 months but only 5% survive beyond 11 months

growth/size/body

decreased body weight ( J:230867 )

• body weight is reduced to 70% of wild-type mice throughout lifespan

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:230867 )

• mice develop an early onset, progressive movement disorder

dystonia ( J:230867 )

• dystonic movements begin at 6 months of age and become more severe in the final months

tremors ( J:230867 )

• tremor begins between the 2nd and 3rd week of life and progresses with age

• however, mice do not exhibit spontaneous convulsive seizures

ataxia ( J:230867 )

• ataxia begins between the 2nd and 3rd week of life and progresses with age

decreased grip strength ( J:230867 )

• 50% reduction of grip strength

abnormal gait ( J:230867 )

• abnormal, lurching gait

muscle

dystonia ( J:230867 )

• dystonic movements begin at 6 months of age and become more severe in the final months

muscle weakness ( J:230867 )

nervous system

decreased nerve conduction velocity ( J:230867 )

• conduction velocity is reduced by 50% in the sciatic-tibial nerve and in the sural nerve

• however, mice exhibit normal neuromuscular junctions

abnormal neuron physiology ( J:230867 )

• majority of cerebellar Purkinje neurons do not exhibit any spontaneous firing and after current injection, only 6/18 mutant cells fire, and those generate only one or a few spikes, indicating that Purkinje neurons lack spontaneous and induced repetitive firing

Genotype
MGI:5634735

hm2

• Allelic Composition: Scn8a^9J/Scn8a^9J
• Genetic Background: BALB/cJ-Scn8a^9J/GrsrJ

mortality/aging

premature death ( J:220447 )

• all homozygotes have reduced longevity

behavior/neurological

tremors ( J:220447 )

• homozygote display an overall body tremor

abnormal motor coordination/balance ( J:220447 )

• homozygotes display progressive movement disorders

Genotype
MGI:5766997

ht3

• Allelic Composition: Scn8a^9J/Scn8a⁺
• Genetic Background: B6J.C-Scn8a^9J/Mm

behavior/neurological

decreased locomotor activity ( J:230867 )

• in an unfamiliar environment, the distance traveled by heterozygotes is reduced