Scn8a^m3Btlr
Chemically induced Allele Detail

Summary

• Symbol: Scn8a^m3Btlr
• Name: sodium channel, voltage-gated, type VIII, alpha; mutation 3, Bruce Beutler
• MGI ID: MGI:5607160
• Synonyms: nymph
• Gene: Scn8a Location: Chr15:100767739-100943819 bp, + strand Genetic Position: Chr15, 56.39 cM, cytoband F1
• Alliance: Scn8a^m3Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: The molecular lesion is an A to G transition at base pair 101,035,646 (v38) on chromosome 15, or base pair 165,824 in the GenBank genomic region NC_000081. This corresponds to nucleotide 4,883 in the mRNA sequence NM_001077499 within exon 26 of 27 total exons. The mutation results in a tyrosine (Y) to cysteine (C) substitution at amino acid 1577 (Y1577C) in the SCN8A protein. (J:215819)
• Inheritance: Recessive

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Scn8a Mutation: 99 strains or lines available

References

• Original: J:215819 SoRelle J, et al., Mutagenetix entry for nymph. Updated on December 12, 2014. MGI Direct Data Submission. 2014
• All: 1 reference(s)