Primary Identifier | MGI:5529273 | Allele Type | Targeted |
Attribute String | Humanized sequence | Gene | Slc26a4 |
Transmission | Germline | Strain of Origin | (129X1/SvJ x 129S1/Sv)F1-Kitl<+> |
Is Recombinase | false | Is Wild Type | false |
molecularNote | A point mutation (A to G) in exon 19 results in the amino acid substitution of arginine for histidine at position 723 (H723R). This mutation is found in Asia in human populations with hereditary hearing loss. Cre-mediated recombination removed the floxed neomycin resistance cassette inserted upstream of the modified exon 19. |