Primary Identifier | MGI:6200360 | Allele Type | Chemically induced (ENU) |
Attribute String | Not Specified | Gene | Gys2 |
Inheritance Mode | Recessive | Strain of Origin | C57BL/6J |
Is Recombinase | false | Is Wild Type | false |
Project Collection | Beutler Mutagenetix |
molecularNote | ENU-induced T to A transversion at base pair 142,454,484 (v38) on chromosome 6, or base pair 18,647 in the GenBank genomic region NC_000072 encoding Gys2. The mutation corresponds to residue 1,308 in the mRNA sequence NM_145572 within exon 7 of 17 total exons. The mutation results in a phenylalanine (F) to isoleucine (I) substitution at residue 334 (F334I) in the GYS2 protein. |