Primary Identifier | MGI:6284798 | 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=3766 |
molecularNote | ENU-induced G to A transition at base pair 71,686,058 (v38) on chromosome 8, or base pair 9,676 in the GenBank genomic region NC_000074 encoding Jak3. The mutation corresponds to residue 3,109 in the mRNA sequence NM_010589 within exon 21 of 25 total exons. The mutation results in an alanine to threonine substitution at position 967 (A967T) in the JAK3 protein. |