Wt1^tm1Vih
Targeted Allele Detail

Summary

• Symbol: Wt1^tm1Vih
• Name: WT1 transcription factor; targeted mutation 1, Vicki Huff
• MGI ID: MGI:3512766
• Synonyms: Wt1^R394W
• Gene: Wt1 Location: Chr2:104956874-105003959 bp, + strand Genetic Position: Chr2, 55.06 cM, cytoband E
• Alliance: Wt1^tm1Vih page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:94225
• Parent Cell Line: AB1 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1⁺

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: 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. (J:94225)

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Wt1 Mutation: 34 strains or lines available

References

• Original: J:94225 Gao F, et al., The Wt1+/R394W mouse displays glomerulosclerosis and early-onset renal failure characteristic of human Denys-Drash syndrome. Mol Cell Biol. 2004 Nov;24(22):9899-910
• All: 4 reference(s)