Primary Identifier | MGI:6114045 | Allele Type | Chemically induced (ENU) |
Attribute String | Not Specified | Gene | Hps5 |
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 46,769,351 (v38) on chromosome 7, or base pair 26,714 in the GenBank genomic region NC_000073. The mutation corresponds to residue 2,972 in the mRNA sequence NM_001005248 within exon 17 of 23 total exons. The mutation results in substitution of glutamine (Q) 832 for a premature stop codon (Q832*) in isoform 1 or Q798* in isoform 2 of the protein. |