Primary Identifier | MGI:6199970 | 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 C to T transition at base pair 50,950,923 (v38) on chromosome 14, or base pair 6,621 in the GenBank genomic region NC_000080 encoding Pnp. The mutation corresponds to residue 833 in the mRNA sequence NM_013632 within exon 5 of 6 total exons. The mutation results in substitution of arginine 185 for a premature stop codon (R185*) in the PNP protein. |