Primary Identifier | MGI:7511768 | Allele Type | Targeted |
Attribute String | Humanized sequence | Gene | Slc12a3 |
Transmission | Germline | Strain of Origin | (129X1/SvJ x 129S1/Sv)F1-Kitl<+> |
Is Recombinase | false | Is Wild Type | false |
molecularNote | A TCT to TAG change resulting in a threonine to methionine substitution at amino acid 58 (p.T58M) was introduced into exon 1. A loxP flanked neomycin selection cassette that was inserted downstream of exon 1 was removed via cre-expression in ES cells. This mutation corresponds to the p.T60M variant that is common in patients with Gitelman syndrome. |