Primary Identifier | MGI:6284782 | Allele Type | Chemically induced (ENU) |
Attribute String | Not Specified | Gene | Klhl6 |
Inheritance Mode | Recessive | Strain of Origin | C57BL/6J |
Is Recombinase | false | Is Wild Type | false |
Project Collection | Beutler Mutagenetix |
description | https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=3773 |
molecularNote | ENU-induced T to A transversion at base pair 19,948,127 (v38) on chromosome 16, or base pair 34,923 in the GenBank genomic region NC_000082 encoding Klhl6. The mutation corresponds to residue 1,562 in the mRNA sequence NM_183390 within exon 6 of 7 total exons. The mutation results in a cysteine to serine substitution at position 506 (C506S) in the KLHL6 protein. |