Wt1tm1Vih
Targeted Allele Detail
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| 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
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| Alliance: |
Wt1tm1Vih page
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| Germline Transmission: |
Earliest citation of germline transmission:
J:94225
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| Parent Cell Line: |
AB1 (ES Cell)
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| Strain of Origin: |
129S7/SvEvBrd-Hprt1+
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| Allele Type: |
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Targeted (Humanized sequence) |
| Mutation: |
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Single point mutation
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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)
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View phenotypes and curated references for all genotypes (concatenated display).
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| 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
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| Carrying any Wt1 Mutation: |
34 strains or lines available
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| 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) |
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Analysis Tools
