Primary Identifier | MGI:6199507 | Allele Type | Chemically induced (ENU) |
Attribute String | Not Specified | Gene | Mpz |
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 171,158,810 (v38) on chromosome 1, or base pair 8,098 in the GenBank genomic region NC_000067 encoding Mpz. The mutation corresponds to residue 458 in the NM_008623 mRNA sequence in exon 5 of 8 total exons. The mutation results in an arginine (R) to cysteine (C) substitution at position 98 (R98C) in both variants of the MPZ protein. |