| Primary Identifier | MGI:6283983 | Allele Type | Chemically induced (ENU) |
| Attribute String | Not Specified | Gene | Epg5 |
| 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=2993 |
| molecularNote | T to A transversion at base pair 77,948,299 (v38) on chromosome 18, or base pair 9,892 in the GenBank genomic region NC_000084. The mutation corresponds to residue 243 (c.243T>A) in the mRNA sequence NM_001195633.2 within exon 2 of 44 total exons. The mutation results in substitution of cysteine 70 for a premature stop codon (p.C70*) in the EPG5 protein. |
