|
|
| Nomenclature |
|
Symbol:
|
Wt1tm1Vih
|
|
Name:
|
Wilms tumor 1 homolog;
targeted mutation 1, Vicki Huff
|
|
MGI ID: |
MGI:3512766 |
|
Synonyms: |
Wt1R394W |
|
Gene:
|
Wt1
Location:
Chr2:105126529-105173616 bp, + strand
Genetic Position: Chr2,
55.06 cM, cytoband E
|
|
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 (knock-in) |
|
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)
|
|
Phenotypes
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| 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:
|
7 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: |
1 reference(s)
|
|
Analysis Tools
