Phenotypes associated with this allele

• Allele Symbol: Scn8a^dmu
• Allele Name: degenerating muscle
• Allele ID: MGI:2429654
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Scn8a^dmu/Scn8a^dmu	involves: C3H * C57BL/6	MGI:3818075
hm2	Scn8a^dmu/Scn8a^dmu	involves: C3H * C57BL/6 * C57BL/6J	MGI:3818083
hm3	Scn8a^dmu/Scn8a^dmu	involves: C3H * C57BL/6 * DBA/2J	MGI:3818084
ht4	Scn8a^dmu/Scn8a^med	involves: C3H * C3HeB/Fe * C57BL/6	MGI:3818076

Genotype
MGI:3818075

hm1

• Allelic Composition: Scn8a^dmu/Scn8a^dmu
• Genetic Background: involves: C3H * C57BL/6

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

mortality/aging

premature death ( J:71615 )

• mice die within the first month of life

muscle

myocardial fiber degeneration ( J:71615 )

• mice exhibit degeneration of skeletal and cardiac muscle unlike in wild-type mice

skeletal muscle necrosis ( J:71615 )

dystrophic muscle ( J:71615 )

• mice exhibit degeneration of skeletal and cardiac muscle unlike in wild-type mice that leads to weakness and wasting of muscle

muscle degeneration ( J:71615 )

• mice exhibit degeneration of skeletal and cardiac muscle unlike in wild-type mice

cardiovascular system

myocardial fiber degeneration ( J:71615 )

• mice exhibit degeneration of skeletal and cardiac muscle unlike in wild-type mice

abnormal atrium endocardium morphology ( J:71615 )

• mice exhibit thinning of the epicardium unlike in wild-type mice

abnormal heart septum morphology ( J:71615 )

• mice exhibit degeneration of the cardiac muscle in the septum unlike in wild-type mice

abnormal heart ventricle morphology ( J:71615 )

• mice exhibit degeneration of the cardiac muscle in the ventricle unlike in wild-type mice

behavior/neurological

hindlimb paralysis ( J:71615 )

• at 2 weeks of age mice exhibit a progressive loss of mobility in their hindlimbs

growth/size/body

decreased body weight ( J:71615 )

• at P15, mice weigh 26% less than wild-type mice

• at P18, mice weigh 48% less than wild-type mice

respiratory system

respiratory distress ( J:71615 )

• at advanced stages of illness, mice exhibit labored breathing

nervous system

nervous system phenotype ( J:71615 )

N • despite paralysis, mice do not exhibit neuropathy

Genotype
MGI:3818083

hm2

• Allelic Composition: Scn8a^dmu/Scn8a^dmu
• Genetic Background: involves: C3H * C57BL/6 * C57BL/6J

vision/eye

abnormal eye electrophysiology ( J:98511 )

• at P16, alpha and beta waves are reduced and latency times are increased compared to in wild-type mice

Genotype
MGI:3818084

hm3

• Allelic Composition: Scn8a^dmu/Scn8a^dmu
• Genetic Background: involves: C3H * C57BL/6 * DBA/2J

vision/eye

vision/eye phenotype ( J:98511 )

N • despite abnormal eye electrophysiology, mice exhibit normal eye morphology with no evidence of gliosis or hypoxia

abnormal eye electrophysiology ( J:98511 )

• at P16, alpha and beta waves are reduced and latency times are increased compared to in wild-type mice

Genotype
MGI:3818076

ht4

• Allelic Composition: Scn8a^dmu/Scn8a^med
• Genetic Background: involves: C3H * C3HeB/Fe * C57BL/6

mortality/aging

postnatal lethality ( J:71615 )

• mice do not survive beyond weaning

muscle

dystrophic muscle ( J:71615 )

• beginning at 2 weeks of age although a few days later than in Scn8a^dmu homozygotes

behavior/neurological

abnormal voluntary movement ( J:71615 )

• similar to Scn8a^med homozygotes, mice are prone to positioning themselves on their side and wriggling

hindlimb paralysis ( J:71615 )

• at 2 weeks of age mice exhibit a progressive loss of mobility in their hindlimbs