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Wt1tm1Vih
Targeted Allele Detail
Summary
Symbol: Wt1tm1Vih
Name: WT1 transcription factor; targeted mutation 1, Vicki Huff
MGI ID: MGI:3512766
Synonyms: Wt1R394W
Gene: Wt1  Location: Chr2:104956874-105003959 bp, + strand  Genetic Position: Chr2, 55.06 cM, cytoband E
Alliance: Wt1tm1Vih page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:94225
Parent Cell Line:  AB1 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprt+
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutation:    Single point mutation
 
Mutation detailsA 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 4 anatomical structures
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:  28 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
01/17/2023
MGI 6.22
The Jackson Laboratory