Phenotypes associated with this allele

• Allele Symbol: Scnm1^s
• Allele Name: susceptibility
• Allele ID: MGI:2674104
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cx1	Scn8a^med-J/Scn8a^med-J Scnm1^s/Scnm1^+	involves: C3HeB/FeJ * C57BL/6J	MGI:6259406
cx2	Scn8a^med-J/Scn8a^med-J Scnm1^s/Scnm1^s	involves: C57BL/6J	MGI:2674112
cx3	Scn8a^med-J/Scn8a^med-J Scnm1^s/Scnm1^s	involves: C57BL/6J * STOCK Krt71^Ca	MGI:3818069

Genotype
MGI:6259406

cx1

• Allelic Composition: Scn8a^med-J/Scn8a^med-J; Scnm1^s/Scnm1⁺
• Genetic Background: involves: C3HeB/FeJ * C57BL/6J

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

behavior/neurological

tremors ( J:108906 )

abnormal posture ( J:108906 )

• mice display dystonic postures

paraparesis ( J:108906 )

hearing/vestibular/ear

increased susceptibility to age-related hearing loss ( J:108906 )

impaired hearing ( J:108906 )

nervous system

abnormal action potential ( J:108906 )

• abnormal conduction of action potentials throughout the nervous system

abnormal CNS synaptic transmission ( J:108906 )

• absence of spontaneous bursting activity in the dorsal cochlear nucleus

Genotype
MGI:2674112

cx2

• Allelic Composition: Scn8a^med-J/Scn8a^med-J; Scnm1^s/Scnm1^s
• Genetic Background: involves: C57BL/6J

mortality/aging

premature death ( J:79617 )

• do not survive beyond one month of age

behavior/neurological

dystonia ( J:79617 )

ataxia ( J:79617 )

paralysis ( J:79617 )

muscle

dystonia ( J:79617 )

muscular atrophy ( J:79617 )

Genotype
MGI:3818069

cx3

• Allelic Composition: Scn8a^med-J/Scn8a^med-J; Scnm1^s/Scnm1^s
• Genetic Background: involves: C57BL/6J * STOCK Krt71^Ca

mortality/aging

premature death ( J:141236 )

• mice survive one month

muscle

muscle weakness ( J:141236 )

• mice exhibit muscle weakness but retain hindlimb function

cellular

abnormal cell physiology ( J:141236 )

• mice exhibit reduced splicing of the Scn8a^med-J transcript compared to in wild-type mice