Primary Identifier | MGI:6199974 | Allele Type | Chemically induced (ENU) |
Attribute String | Not Specified | Gene | Pnp |
Inheritance Mode | Recessive | Strain of Origin | C57BL/6J |
Is Recombinase | false | Is Wild Type | false |
Project Collection | Beutler Mutagenetix |
molecularNote | ENU-induced T to A transversion at base pair 50,951,506 (v38) on chromosome 14, or base pair 7,204 in the GenBank genomic region NC_000080 encoding Pnp. The mutation corresponds to residue 1,035 in the mRNA sequence NM_013632 within exon 5 of 6 total exons. The mutation results in substitution of leucine 252 for a premature stop codon (L252*) in the PNP protein. |