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| Nomenclature |
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Symbol:
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Wt1tm2Hst
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Name:
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Wilms tumor 1 homolog;
targeted mutation 2, Nicholas D Hastie
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MGI ID: |
MGI:3610301 |
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Synonyms: |
Wt11tmT396 |
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Gene:
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Wt1
Location:
Chr2:105126529-105173616 bp, + strand
Genetic Position: Chr2,
55.06 cM, cytoband E
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Mutation
origin |
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Mouse Generated:
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Earliest citation of chimera generation:
J:53585
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Parent Cell Line:
| Other (see notes) (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Nucleotide substitutions |
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Mutation details: The insertion of a Leu2/neo cassette resulted in the S395R amino acid substitution and a premature termination within ZF3 by inclusion of a translational stop codon at 396. This would cause a truncation of 7.3 kDa with the loss of 52 amino acids, including the KTS insert and ZF4, and would render ZF3 nonfunctional by removing its alpha-helix. Western blot analysis confirmed truncation of two of the four isoforms. Cell fractionation showed that the low level of mutant protein was not a result of retention in the cytoplasm, therefore, posttranscriptional events must account for the fact that only 5% of the protein is mutant. (J:53585)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Wt1 Mutation:
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7 strains or lines available |
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Notes |
ES cell line = E14 or CGR8. The ES cell line used to derive the one reported heterozygous male is not noted in J:53585 or J:103489. Phenotypic data described in these publications are for the single heterozygous male obtained from a female chimera. Chimeras exhibit a similar, although less severe, phenotype as the heterozygous male.
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| References |
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Original: |
J:53585
Patek CE et al.,
"A zinc finger truncation of murine WT1 results in the characteristic urogenital abnormalities of Denys-Drash syndrome."
Proc Natl Acad Sci U S A 1999 Mar 16;96(6):2931-6
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All: |
3 reference(s)
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Analysis Tools
