Cacna2d2^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Cacna2d2^m1Btlr
• Name: calcium channel, voltage-dependent, alpha 2/delta subunit 2; mutation 1, Bruce Beutler
• MGI ID: MGI:5688505
• Synonyms: hera
• Gene: Cacna2d2 Location: Chr9:107276948-107406545 bp, + strand Genetic Position: Chr9, 58.02 cM
• Alliance: Cacna2d2^m1Btlr page

Mutation origin

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

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis induced a T to C transversion at base pair 107,513,280 (v38) on chromosome 9, or base pair 113,401 in the GenBank genomic region NC_000075. The mutation corresponds to residue 1,139 in the mRNA sequence NM_001174047 within exon 10 of 39 total exons. The mutation results in a valine (V) to alanine (A) substitution at position 317 (V317A) in all protein variants. (J:224663)
• 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 Cacna2d2 Mutation: 72 strains or lines available

References

• Original: J:224663 Chen Z, et al., Mutagenetix entry for hera. MGI Direct Data Submission. 2015
• All: 1 reference(s)