Primary Identifier | MGI:5806435 | Allele Type | Chemically induced (ENU) |
Attribute String | Not Specified | Gene | Slc26a4 |
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 31,525,568 (v38) on chromosome 12, or base pair 35,072 in the GenBank genomic region NC_000078. The mutation corresponds to residue 2,333 in the mRNA sequence NM_011867 within exon 19 of 21 total exons. The mutation results in substitution of cysteine (C) 706 to a premature stop codon in the pendrin protein. |