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Scn8a4J
Chemically induced Allele Detail
Summary
Symbol: Scn8a4J
Name: sodium channel, voltage-gated, type VIII, alpha; 4 Jackson
MGI ID: MGI:2183462
Synonyms: neuroscience mutagenesis facility, 2, nmf2, NMF2, Scn8anmf2
Gene: Scn8a  Location: Chr15:100767739-100943819 bp, + strand  Genetic Position: Chr15, 56.39 cM, cytoband F1
Alliance: Scn8a4J page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsThis phenotypic mutant was identified in an ENU mutagenesis screen. A complementation test between nmf2 and Scn8anmf5 revealed that nmf2 is a new allele of Scn8a. Sequence analysis demonstrated that an A-to-C transversion mutation occurred in the coding sequence that is predicted to change asparagine 1370 to threonine. This conserved residue is within the S5-S6 pore loop of transmembrane domain 3. (J:90095)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 anatomical structure(s)
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:78134 JAX Neuroscience Mutagenesis Facility, Heritable mouse mutants from JAX NMF ENU Mutagenesis Program. MGI Direct Data Submission. 2002;
All:  3 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
03/19/2024
MGI 6.23
The Jackson Laboratory