Phenotypes associated with this allele

• Allele Symbol: Scn8a^5J
• Allele Name: 5 Jackson
• Allele ID: MGI:2183472
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Scn8a^5J/Scn8a^5J	C57BL/6J-Scn8a^5J/J	MGI:2183476

Genotype
MGI:2183476

hm1

• Allelic Composition: Scn8a^5J/Scn8a^5J
• Genetic Background: C57BL/6J-Scn8a^5J/J

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

mortality/aging

postnatal lethality, complete penetrance ( J:78134 , J:90095 )

• Homozygotes die between 3 and 4 weeks of age (J:78134)

behavior/neurological

hindlimb paralysis ( J:78134 , J:90095 )

• loss of the use of hindlimbs bilaterally is evident between 14-22 days (J:78134)

• standard pathological workup on 6 mutants and 2 unaffected mice (12-40 days of age) showed no apparent defects in PNS or muscle; additional muscle histology showed no evidence of atrophy, regeneration or abnormalities in the neuromuscular junction (J:78134)

nervous system

abnormal brain morphology ( J:78134 )

hydrocephaly ( J:78134 )

• mild hydrocephalus was noted in 7 of 8 mutant mice examined

enlarged brain ventricles ( J:78134 )

• ventricles were enlarged

decreased cerebellar granule cell number ( J:78134 )

• a paucity of granule cells was observed in small areas of the cerebellum