Wt1^em1Anuba
Endonuclease-mediated Allele Detail

Summary

• Symbol: Wt1^em1Anuba
• Name: WT1 transcription factor; endonuclease-mediated mutation 1, Anu Bashamboo
• MGI ID: MGI:8436482
• Synonyms: Wt1^Arg495Gly
• Gene: Wt1 Location: Chr2:104956874-105003959 bp, + strand Genetic Position: Chr2, 55.06 cM, cytoband E
• Alliance: Wt1^em1Anuba page

Mutation origin

• Strain of Origin: (C57BL/6J x CBA)F1

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details:

  Arginine codon 495 (CGC) was changed to glycine (GGC) (p.R495G) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation, in the fourth zinc finger (ZF4) of the encoded protein, is the equivalent of the same human mutation associated with testicular disorder/difference of sex development (TDSD) and ovotesticular DSD (OTDSD). Embryonic gonads of homozygous XX mutant mice show masculinization and kidney development in both sexes is impaired. (J:290670)

Expression

In Structures Affected by this Mutation:

6 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: 37 strains or lines available

References

• Original: J:290670 Eozenou C, et al., Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene. Proc Natl Acad Sci U S A. 2020 Jun 16;117(24):13680-13688
• All: 1 reference(s)