Primary Identifier | MGI:6113645 | Allele Type | Chemically induced (ENU) |
Attribute String | Modified isoform(s) | Gene | Impdh1 |
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 29,204,632 (v38) on chromosome 6, or base pair 11,733 in the GenBank genomic region NC_000072. The mutation corresponds to residue 978 in the mRNA sequence NM_178666 within exon 8 of 14 total exons, and residue 1,144 in the mRNA sequences NM_001302933 and NM_001302934 in exon 8 of 14 total exons. The mutation results in substitution of glutamine (Q) 283 to a premature stop codon (Q283*) in isoform 3 of the protein and Q307* in isoform 1 and 2 of the protein. |