Primary Identifier | MGI:6268710 | Allele Type | Chemically induced (ENU) |
Attribute String | Not Specified | Gene | Ryr2 |
Inheritance Mode | Recessive | Strain of Origin | C57BL/6J |
Is Recombinase | false | Is Wild Type | false |
Project Collection | Beutler Mutagenetix |
molecularNote | ENU-induced C to A transversion at base pair 11,879,496 (v38) on chromosome 13, or base pair 227,450 in the GenBank genomic region NC_000079. The mutation corresponds to residue 1,054 in the mRNA sequence NM_023868 within exon 8 of 105 total exons. The mutation results in a serine to arginine substitution at position 185 (S185R) in the RYR2 protein. |