Phenotypes associated with this allele

• Allele Symbol: Scn8a^med-TgA4Bs
• Allele Name: motor end plate disease (TgA4Bs)
• Allele ID: MGI:1856414
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Scn8a^med-TgA4Bs/Scn8a^med-TgA4Bs	B6.Cg-Scn8a^med-TgA4Bs	MGI:3818258
hm2	Scn8a^med-TgA4Bs/Scn8a^med-TgA4Bs	involves: C3H * C57BL/6J	MGI:3818256
ht3	Scn8a^med-TgA4Bs/Scn8a^nur14	involves: C3H * C57BL/6J	MGI:3840663

Genotype
MGI:3818258

hm1

• Allelic Composition: Scn8a^med-TgA4Bs/Scn8a^med-TgA4Bs
• Genetic Background: B6.Cg-Scn8a^med-TgA4Bs

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

vision/eye

abnormal eye electrophysiology ( J:110231 )

• retinal ganglion cells exhibit a subtle but significant decrease in repetitive spikes fired during depolarization compared to in wild-type cells

• retinal ganglion cells firing rates fail to increased between P12 and P18 as in wild-type mice

• retinal ganglion cells are less able to generate spikes at short interspike intervals after depolarization compared to wild-type cells and achieve spike failure sooner than in wild-type cells

Genotype
MGI:3818256

hm2

• Allelic Composition: Scn8a^med-TgA4Bs/Scn8a^med-TgA4Bs
• Genetic Background: involves: C3H * C57BL/6J

mortality/aging

premature death ( J:24228 )

• mice die by 25 days of age

behavior/neurological

limb grasping ( J:24228 )

impaired balance ( J:24228 )

• 11 days after birth

hindlimb paralysis ( J:24228 )

• 14 days after birth

muscle

muscular atrophy ( J:24228 )

growth/size/body

decreased body weight ( J:24228 )

nervous system

nervous system phenotype ( J:24228 )

N • despite abnormal behavior and muscle loss, mice exhibit normal numbers of motor neurons in the spinal cord

Genotype
MGI:3840663

ht3

• Allelic Composition: Scn8a^med-TgA4Bs/Scn8a^nur14
• Genetic Background: involves: C3H * C57BL/6J

mortality/aging

postnatal lethality ( J:146758 )

• mice do not survive beyond weaning

behavior/neurological

tremors ( J:146758 )

ataxia ( J:146758 )