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Scn8a8J
Chemically induced Allele Detail
Nomenclature
Symbol: Scn8a8J
Name: sodium channel, voltage-gated, type VIII, alpha; 8 Jackson
MGI ID: MGI:3806790
Synonyms: Scn8aV929F, V929F
Gene: Scn8a  Location: Chr15:100869863-101045938 bp, + strand  Genetic Position: Chr15, 56.39 cM, cytoband F1
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsENU mutagenesis induced a G to T transition at position 2785 that results in the amino acid substitution of phenylalanine for valine at position 929 (V929F). This substitution occurs in the pore region of the protein. (J:147199)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 1 anatomical structures
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:  21 strains or lines available
References
Original:  J:147199 Papale LA, et al., Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice. Hum Mol Genet. 2009 May 1;18(9):1633-41
All:  4 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
12/03/2019
MGI 6.14
The Jackson Laboratory