Primary Identifier | MGI:3512766 | Allele Type | Targeted |
Attribute String | Humanized sequence | Gene | Wt1 |
Transmission | Germline | Strain of Origin | 129S7/SvEvBrd-Hprt1<+> |
Is Recombinase | false | Is Wild Type | false |
molecularNote | A C to T transition resulting in the substitution of tryptophan for arginine at amino acid 394 (R394W) was introduced into exon 9 and a loxP flanked PGK-neo cassette was inserted in reverse orientation 3' of exon 9 via homologous recombination. This point mutation is found in patients with Denys-Drash syndrome. The PGK-neo cassette was removed by crossing to mice expressing germline Cre-recombinase. Heterozygotes express both alleles although the level of mutant transcript is reduced relative to wild-type transcript. |