Primary Identifier | MGI:5789594 | Allele Type | Chemically induced (ENU) |
Attribute String | Not Specified | Gene | Ptpn6 |
Inheritance Mode | Recessive | Strain of Origin | C57BL/6J |
Is Recombinase | false | Is Wild Type | false |
Project Collection | Beutler Mutagenetix |
molecularNote | ENU-induced A to G transition at base pair 124,728,419 (v38) on chromosome 6, or base pair 10,291 in the GenBank genomic region NC_000072 encoding. The mutation corresponds to residue 866 in the mRNA sequence NM_013545 within exon 6 of 16 total exons and residue 868 in the mRNA sequence NM_001077705 within exon 6 of 16 total exons. The mutation results in an aspartic acid (D) to glycine (G) substitution at position 219 (D219G) in variant 1 and D224G in variant 2 of the protein. |