Primary Identifier | MGI:6305331 | Allele Type | Chemically induced (ENU) |
Attribute String | Not Specified | Gene | Jak3 |
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=2372 |
molecularNote | T to A transversion at base pair 71,685,545 (v38) on chromosome 8, or base pair 9,163 in the GenBank genomic region NC_000074 encoding Jak3. The mutation corresponds to residue 2,849 in the mRNA sequence NM_010589 within exon 19 of 25 total exons, and to residue 2,849 in the mRNA sequence NM_001190830 within exon 19 of 24 total exons. he mutation results in a valine (V) to aspartic acid (D) substitution at position 880 (V880D) in the JAK3 protein. |