Cacna1a^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Cacna1a^m1Btlr
• Name: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit; mutation 1, Bruce Beutler
• MGI ID: MGI:6269366
• Synonyms: totter
• Gene: Cacna1a Location: Chr8:85065268-85366875 bp, + strand Genetic Position: Chr8, 40.95 cM
• Alliance: Cacna1a^m1Btlr 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: ENU-induced A to G transition at base pair 84,588,753 (v38) on chromosome 8, or base pair 250,124 in the GenBank genomic region NC_000074 encoding Cacna1a. The mutation corresponds to residue 4,897 in the mRNA sequence NM_007578 within exon 30 of 47 total exons and residue 4,756 in the mRNA sequence NM_001252059 within exon 29 of 46 total exons. The mutation results in a tyrosine to cysteine substitution at position 1,539 (Y1539C) in variants 1, 3, and 4 CACNA1A protein and a Y1492C substitution in variant 2 of the CACNA1A protein. (J:267668)
• Inheritance: Recessive

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 Cacna1a Mutation: 115 strains or lines available

References

• Original: J:267668 Keef J, et al., Mutagenetix entry for totter. MGI Direct Data Submission. 2018
• All: 1 reference(s)