Primary Identifier | MGI:6285172 | 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 |
description | https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=3819 |
molecularNote | ENU-induced A to G transition at base pair 124,721,789 (v38) on chromosome 6, or base pair 16,921 in the GenBank genomic region NC_000072. The mutation corresponds to residue 1,756 in the mRNA sequence NM_013545 within exon 13 of 16 total exons. The mutation results in a threonine to alanine substitution at position 519 (T519A) in variant 1 of the SHP1 protein. |