Wt1^tm2Hst
Targeted Allele Detail

Summary

• Symbol: Wt1^tm2Hst
• Name: WT1 transcription factor; targeted mutation 2, Nicholas D Hastie
• MGI ID: MGI:3610301
• Synonyms: Wt11^tmT396
• Gene: Wt1 Location: Chr2:104956874-105003959 bp, + strand Genetic Position: Chr2, 55.06 cM, cytoband E
• Alliance: Wt1^tm2Hst page

Mutation origin

• Mouse Generated: Earliest citation of chimera generation: J:53585
• Parent Cell Line: Other (see notes) (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Nucleotide substitutions
• 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)

Disease models

Expression

In Structures Affected by this Mutation:

8 anatomical structure(s)

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: 34 strains or lines available

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.

References

• 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)