| Primary Identifier | MGI:6268779 | Allele Type | Chemically induced (ENU) |
| Attribute String | Not Specified | Gene | Psap |
| Inheritance Mode | Recessive | Strain of Origin | C57BL/6J |
| Is Recombinase | false | Is Wild Type | false |
| Project Collection | Beutler Mutagenetix |
| molecularNote | ENU-induced T to G transversion at base pair 60,300,851 (v38) on chromosome 10, or base pair 23,224 in the GenBank genomic region NC_000076 encoding Psap. The mutation corresponds to residue 1,714 in the mRNA sequence NM_001146120 within exon 13 of 14 total exons. The mutation results in a cysteine to tryptophan substitution at amino acid 533 (C533W) in the PSAP protein. |
