Primary Identifier | MGI:6197824 | Allele Type | Chemically induced (ENU) |
Attribute String | Not Specified | Gene | Vldlr |
Inheritance Mode | Recessive | Strain of Origin | C57BL/6J |
Is Recombinase | false | Is Wild Type | false |
Project Collection | Beutler Mutagenetix |
molecularNote | ENU-induced T to C transition at base pair 27,238,792 (v38) on chromosome 19, or base pair 22,304 in the GenBank genomic region NC_000085 encoding Vldlr. The mutation corresponds to residue 1,607 in the mRNA sequence NM_013703 within exon 7 of 19 total exons, and residue 1,607 in the mRNA sequence NM_001161420 within exon 7 of 18 total exons. The mutation results in a cysteine (C) to arginine (R) substitution at position 338 (C338R) in both variants of the VLDLR protein. |