Vhl^em1.1Yxy
Endonuclease-mediated Allele Detail

Summary

• Symbol: Vhl^em1.1Yxy
• Name: von Hippel-Lindau tumor suppressor; endonuclease-mediated mutation 1.1, Yuxin Yin
• MGI ID: MGI:7572492
• Synonyms: Vhl^mu
• Gene: Vhl Location: Chr6:113600955-113608595 bp, + strand Genetic Position: Chr6, 52.81 cM
• Alliance: Vhl^em1.1Yxy page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutations: Insertion, Single point mutation
• Mutation details: CRISPR/Cas9 technology replaced exon 2 with a modified exon 2 containing an A to T missense mutation (c.349A>T) which results in an isoleucine to phenylalanine substitution at amino acid 117 (p.I117F) and a loxP-flanked neomycin-resistance gene following the mutant exon 2. The neomycin resistance gene was removed via cre-mediated recombination. The p.I117F mutation correlates to the p.I151F mutation in human. (J:344096)

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 Vhl Mutation: 17 strains or lines available

References

• Original: J:344096 Hao W, et al., Critical role of VHL/BICD2/STAT1 axis in crystal-associated kidney disease. Cell Death Dis. 2023 Oct 13;14(10):680
• All: 1 reference(s)