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Scn8amed-J
Spontaneous Allele Detail
Nomenclature
Symbol: Scn8amed-J
Name: sodium channel, voltage-gated, type VIII, alpha; motor end plate disease Jackson
MGI ID: MGI:1856079
Synonyms: medJ, seal
Gene: Scn8a  Location: Chr15:100869863-101045938 bp, + strand  Genetic Position: Chr15, 56.39 cM, cytoband F1
Mutation
origin
Strain of Origin:  STOCK Krt71Ca
Mutation
description
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
 
Mutation detailsA 4-base pair deletion within the 5' donor site of exon 3 results in splicing from exon 1 to exon 4. The mutant transcript has an altered reading frame with premature stop codon close to the N terminus of the protein. A very low level of correctly spliced transcripts has been detected. (J:34154, J:53340)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 9 assay results
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Scn8a Mutation:  20 strains or lines available
Notes
This Scn8amed remutation occurred at The Jackson Laboratory on the same chromosome as the very closely linked gene Krt71 in a stock carrying a mutation in that gene (J:6191). Homozygotes resemble Scn8amed homozygotes. Heterozygotes may show mild manifestations of the disease during the first 2 weeks but they recover. Both homozygotes and heterozygotes exhibit immunological aberrations: reduced PFC response to sheep red blood cells in 14- to 16-day old mice, with reduced suppressor cell function and precocious maturation of the cytotoxic response to allogeneic cells at 21 to 23 days. The reduction in the PFC response disappears in older heterozygotes but remains in the few homozygotes that survive beyond 6 weeks of age (J:6824). The molecular defect in Scn8a is a 4 bp deletion in the splice donor site of exon 3 that causes exon skipping and protein truncation (J:34154). A very low level of correctly spliced transcripts has been detected, indicating that Scn8amed-J is a severe hypomorph (J:53340). The modifier locus Scnm1 on chromosome 3 influences the phenotype of homozygotes for the Scn8amed-J allele (J:53340). C57BL/6J mice carry the susceptible allele of Scnm1 which results in juvenile death. Other inbred strains carry a resistant allele and on these strains, homozygotes exhibit muscle weakness and dystonia.
References
Original:  J:64101 Lane PW, Scn8a - motor end-plate disease-Jackson. Mouse News Lett. 1976;54:40
All:  15 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
04/06/2021
MGI 6.16
The Jackson Laboratory