Phenotypes associated with this allele

• Allele Symbol: Scn8a^med-jo2J
• Allele Name: jolting 2 Jackson
• Allele ID: MGI:3045039
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Scn8a^med-jo2J/Scn8a^med-jo2J	B6(129S7)-Scn8a^med-jo2J/J	MGI:3055091

Genotype
MGI:3055091

hm1

• Allelic Composition: Scn8a^med-jo2J/Scn8a^med-jo2J
• Genetic Background: B6(129S7)-Scn8a^med-jo2J/J

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:92160 )

• there is elevated pre-weaning mortality among mutants, but many survive to adulthood

behavior/neurological

tremors ( J:92160 )

• by 15 days of age, mutants exhibit tremors of the head and trunk

abnormal gait ( J:92160 )

• by 15 days of age, mutants may be recognized by their unsteady gait

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:92160 )

• acoustic brainstem response (ABR) testing of 4 mutant mice aged 51 days revealed elevated ABR thresholds (approximately 30 decibels higher than those of control mice), prolonged latencies and abnormal waveforms

• cochlear function was normal

reproductive system

oligozoospermia ( J:92160 )

♂ • pathology screen of 6-9 month old mutant mice revealed apoptotic spermatids in the testes; however, some mutants of both sexes breed

skeleton

cervical vertebrae degeneration ( J:92160 )

• mutants exhibit degeneration of the cervical vertebrae at 27 weeks which is somewhat more severe at 34 weeks

nervous system

Purkinje cell degeneration ( J:92160 )

• pathology screen of 6-9 month old mutants revealed Purkinje cell loss

axon degeneration ( J:92160 )

• pathology screen revealed dystrophic axons in the cerebellar white matter of 6-9 month old mutants

cellular

oligozoospermia ( J:92160 )

♂ • pathology screen of 6-9 month old mutant mice revealed apoptotic spermatids in the testes; however, some mutants of both sexes breed