Primary Identifier | MGI:5619129 | 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 mutagenesis induced a C to T transition at base pair 85,621,275 (v38) on chromosome 6, or base pair 33,779 in the GenBank genomic region NC_000072 encoding Alms1. The mutation corresponds to residue 3,197 in the mRNA sequence NM_145223 within exon 8 of 23 total exons. The mutated nucleotide converts glutamine 1028 of the ALMS1 protein to a stop codon. |