| Primary Identifier | MGI:6197903 | 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 |
| molecularNote | ENU-induced C to T transition at base pair 85,677,990 (v38) on chromosome 6, or base pair 90,492 in the GenBank genomic region NC_000072 encoding Alms1. The mutation corresponds to residue 8,225 in the NM_145223.2 mRNA sequence in exon 16 of 23 total exons (c.8225C>T). The mutation results in substitution of glutamine 2,704 to a premature stop codon (p.Q2704*) in the ALMS1 protein. |
