All Phenotypes Scn8a<med-J> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Scn8a^med-J
motor end plate disease Jackson
MGI:1856079

Summary

6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Scn8a^med-J/Scn8a^med-J	involves: STOCK Krt71^Ca	MGI:3818068
cx2	Scn8a^med-J/Scn8a^med-J Scnm1^s/Scnm1⁺	involves: C3HeB/FeJ * C57BL/6J	MGI:6259406
cx3	Scn8a^med-J/Scn8a^med-J Scnm1^tm1.1Mm/Scnm1^tm1.1Mm	involves: C57BL/6 * FVB * SJL * STOCK Krt71^Ca	MGI:3818067
cx4	Scn8a^med-J/Scn8a^med-J Scnm1^s/Scnm1^s	involves: C57BL/6J	MGI:2674112
cx5	Scn8a^med-J/Scn8a^med-J Scnm1^s/Scnm1^s	involves: C57BL/6J * STOCK Krt71^Ca	MGI:3818069
cx6	Scn8a^med-J/Scn8a^med-J Scnm1^m1R/Scnm1^m1R	involves: C57BL/6 * STOCK Krt71^Ca	MGI:3818070

Allelic Composition	Scn8a^med-J/Scn8a^med-J
Genetic Background	involves: STOCK Krt71^Ca

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn8a^med-J mutation (2 available); any Scn8a mutation (100 available)

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

mortality/aging

mortality/aging ( J:141236 )

N	• mice exhibit a normal lifespan

behavior/neurological

dystonia ( J:141236 )

• chronic

tremors ( J:141236 )

ataxia ( J:141236 )

• mice exhibit an ataxic gait

abnormal gait ( J:141236 )

• mice exhibit an ataxic gait

muscle

dystonia ( J:141236 )

• chronic

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn8a^med-J mutation (2 available); any Scn8a mutation (100 available)
Scnm1^s mutation (0 available); any Scnm1 mutation (17 available)

♀	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

Allelic Composition	Scn8a^med-J/Scn8a^med-J Scnm1^tm1.1Mm/Scnm1^tm1.1Mm
Genetic Background	involves: C57BL/6 * FVB * SJL * STOCK Krt71^Ca

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn8a^med-J mutation (2 available); any Scn8a mutation (100 available)
Scnm1^tm1.1Mm mutation (0 available); any Scnm1 mutation (17 available)

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

mortality/aging

premature death ( J:141236 )

behavior/neurological

hindlimb paralysis ( J:141236 )

• in all mice

cellular

abnormal cell physiology ( J:141236 )

• mice exhibit reduced splicing of the Scn8a^med-J transcript compared to in wild-type mice and Scn8a^med-J Scnm1^s double homozygotes

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

Find Mice

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

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 )

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

Find Mice

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

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

Allelic Composition	Scn8a^med-J/Scn8a^med-J Scnm1^m1R/Scnm1^m1R
Genetic Background	involves: C57BL/6 * STOCK Krt71^Ca

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn8a^med-J mutation (2 available); any Scn8a mutation (100 available)
Scnm1^m1R mutation (0 available); any Scnm1 mutation (17 available)

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

mortality/aging

postnatal lethality ( J:141236 )

• mice do not survive beyond weaning

behavior/neurological

behavior/neurological phenotype ( J:141236 )

N	• unlike Scn8a^med-J Scnm1^s double homozygotes, mice do not exhibit hindlimb paralysis

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