Primary Identifier | MGI:6286077 | Allele Type | Chemically induced (ENU) |
Attribute String | Not Specified | Gene | Tap2 |
Inheritance Mode | Semidominant | 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=3850 |
molecularNote | ENU-induced C to A transversion at base pair 34,215,940 (v38) on chromosome 17, or base pair 11,462 in the GenBank genomic region NC_000083 encoding Tap2. The mutation corresponds to residue 2,109 in the mRNA sequence NM_011530 within exon 12 of 12 total exons. The mutation results in an aspartic acid to glutamic acid substitution at position 652 (D652E) in the TAP2 protein. |