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Scn8amed
Spontaneous Allele Detail
Nomenclature
Symbol: Scn8amed
Name: sodium channel, voltage-gated, type VIII, alpha; motor end plate disease
MGI ID: MGI:1856078
Synonyms: med
Gene: Scn8a  Location: Chr15:100767739-100943819 bp, + strand  Genetic Position: Chr15, 56.39 cM, cytoband F1
Mutation
origin
Strain of Origin:  PCT
Mutation
description
Allele Type:    Spontaneous (Null/knockout)
Mutation:    Insertion
 
Mutation detailsThe mutation was identified as a small LINE element insertion into exon 2 of the Scn8a gene. This results in exon skipping which is influenced by the AT-AC splice sites in intron 2, and generates a very short inactive protein. This allele is a predicted null. (J:34154)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 2 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Scn8a Mutation:  68 strains or lines available
References
Original:  J:28679 Searle AG, Provisional 'seal' (med). Mouse News Lett. 1962;27:34-5
All:  39 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
11/16/2021
MGI 6.17
The Jackson Laboratory