| Primary Identifier | MGI:6305831 | Allele Type | Chemically induced (ENU) |
| Attribute String | Not Specified | Gene | Alms1 |
| 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=4331 |
| molecularNote | A to T transversion at base pair 85,620,369 (v38) on chromosome 6, or base pair 32,871 in the GenBank genomic region NC_000072 encoding Alms1. The mutation corresponds to residue 2,291 in the NM_145223 mRNA sequence in exon 8 of 23 total exons. The mutation results in substitution of arginine 726 for a premature stop codon (R726*) in the ALMS1 protein. |
