Primary Identifier | MGI:6268770 | Allele Type | Chemically induced (ENU) |
Attribute String | Not Specified | Gene | Gsdmd |
Inheritance Mode | Recessive | Strain of Origin | C57BL/6J |
Is Recombinase | false | Is Wild Type | false |
Project Collection | Beutler Mutagenetix |
molecularNote | ENU-induced T to C transition at base pair 75,864,357 (v38) on chromosome 15, or base pair 2,217 in the GenBank genomic region NC_000081 encoding Gsdmd. The mutation corresponds to residue 483 in the NM_026960 mRNA sequence in exon 3 of 11 total exons. The mutation results in a serine (S) to proline (P) substitution at residue 112 (S112P) in the GSDMD protein. |