Primary Identifier | MGI:6268706 | Allele Type | Chemically induced (ENU) |
Attribute String | Not Specified | Gene | Ryr2 |
Inheritance Mode | Semidominant | Strain of Origin | C57BL/6J |
Is Recombinase | false | Is Wild Type | false |
Project Collection | Beutler Mutagenetix |
molecularNote | ENU-induced G to A transition at base pair 11,643,895 (v38) on chromosome 13, or base pair 463,051 in the GenBank genomic region NC_000079 encoding Ryr2. The mutation corresponds to residue 11,340 in the mRNA sequence NM_023868 within exon 77 of 105 total exons. The mutation results in an arginine (R) to glutamine (Q) substitution at position 3,614 (R3614Q) in the Ryr2 protein. |