Vhl^tm1.1Wkr
Targeted Allele Detail

Summary

• Symbol: Vhl^tm1.1Wkr
• Name: von Hippel-Lindau tumor suppressor; targeted mutation 1.1, WK Rathmell
• MGI ID: MGI:4436910
• Synonyms: Vhl^2B
• Gene: Vhl Location: Chr6:113600955-113608595 bp, + strand Genetic Position: Chr6, 52.81 cM
• Alliance: Vhl^tm1.1Wkr page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:157369
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Humanized sequence, Modified isoform(s))
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A guanine to adenine transition at base 518 in exon 3 causes a change in codon 167 with the replacement of arginine by glutamine (R518Q) in the resulting protein. A floxed neomycin cassette was inserted in intron 2 as well. Transient transfection with a cre expressing vector resulted in excision of the neomycin selection cassette. (J:157369)

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Vhl Mutation: 17 strains or lines available

References

• Original: J:157369 Lee CM, et al., VHL Type 2B gene mutation moderates HIF dosage in vitro and in vivo. Oncogene. 2009 Apr 9;28(14):1694-705
• All: 2 reference(s)