Primary Identifier | MGI:6269388 | 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 A to T transversion at base pair 85,628,735 (v38) on chromosome 6, or base pair 41,237 in the GenBank genomic region NC_000072 encoding Alms1. The mutation corresponds to residue 6,074 in the mRNA sequence NM_145223 within exon 10 of 23 total exons. The mutation results in substitution of lysine 1,987 for a premature stop codon (K1987*) in the ALMS1 protein. |