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Scn8amed-jo
Spontaneous Allele Detail
Summary
Symbol: Scn8amed-jo
Name: sodium channel, voltage-gated, type VIII, alpha; jolting
MGI ID: MGI:1856080
Synonyms: jo, medjo
Gene: Scn8a  Location: Chr15:100767739-100943819 bp, + strand  Genetic Position: Chr15, 56.39 cM, cytoband F1
Alliance: Scn8amed-jo page
Mutation
origin
Strain of Origin:  DBA/2WyDi
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsA transition point mutation that altered coding nucleotide 3949 from G-to-A, which replaces the alanine at residue 1317 with threonine (p.A1317T). The mutation is located in a region of the ion channel that is predicted to encode the cytoplasmic linker between integral membrane segments S4 and S5 in domain III. (J:35567)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:  99 strains or lines available
References
Original:  J:15056 Dickie MM, Jolting. Mouse News Lett. 1965;32:44
All:  13 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
10/22/2024
MGI 6.24
The Jackson Laboratory