Ryr2^m3Btlr
Chemically induced Allele Detail

Summary

• Symbol: Ryr2^m3Btlr
• Name: ryanodine receptor 2, cardiac; mutation 3, Bruce Beutler
• MGI ID: MGI:6268714
• Synonyms: arruda3
• Gene: Ryr2 Location: Chr13:11567988-12121831 bp, - strand Genetic Position: Chr13, 4.38 cM, cytoband A1-A2
• Alliance: Ryr2^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: ENU-induced A to T transversion at base pair 11,555,448 (v38) on chromosome 13, or base pair 551,498 in the GenBank genomic region NC_000079. The mutation corresponds to residue 15,287 in the mRNA sequence NM_023868 within exon 104 of 105 total exons. The mutation results in a threonine to serine substitution at position 4,930 (T4930S) in the RYR2 protein. (J:267530)
• 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 Ryr2 Mutation: 325 strains or lines available

References

• Original: J:267530 Pontes R, et al., Mutagenetix entry for arruda3. MGI Direct Data Submission. 2018
• All: 1 reference(s)