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Targeted Allele Detail
Symbol: Wt1tm2Hst
Name: Wilms tumor 1 homolog; targeted mutation 2, Nicholas D Hastie
MGI ID: MGI:3610301
Synonyms: Wt11tmT396
Gene: Wt1  Location: Chr2:105126529-105173616 bp, + strand  Genetic Position: Chr2, 55.06 cM, cytoband E
Mouse Generated:  Earliest citation of chimera generation: J:53585
Parent Cell Line:  Other (see notes) (ES Cell)
Strain of Origin:  129P2/OlaHsd
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Nucleotide substitutions
Mutation detailsThe 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)
View phenotypes for all genotypes (concatenated display).
Disease models
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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
Carrying any Wt1 Mutation:  10 strains or lines available
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.

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
All:  3 reference(s)

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