| Primary Identifier | MGI:5806297 | Allele Type | Chemically induced (ENU) |
| Attribute String | Not Specified | Gene | Kbtbd2 |
| Inheritance Mode | Recessive | Strain of Origin | C57BL/6J |
| Is Recombinase | false | Is Wild Type | false |
| Project Collection | Beutler Mutagenetix |
| description | URL for website with data : https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=940 |
| molecularNote | ENU treatment induced a C-to-T transition at base pair 56,780,389 (GRCm38) on chromosome 6, equivalent to base pair 17,425 in the GenBank genomic region NC_000072. The mutation corresponds to residue 1,004 in the NM_145958 mRNA sequence in exon 4 of 4 total exons. The mutation results in substitution of an arginine (R) with a premature stop codon at amino acid 121 in the protein (p.R121*). Western blot analysis confirmed the absence of protein expression in the liver and mouse embryonic fibroblasts. |
