Vhl^tm1Mcs
Targeted Allele Detail

Summary

• Symbol: Vhl^tm1Mcs
• Name: von Hippel-Lindau tumor suppressor; targeted mutation 1, M Celeste Simon
• MGI ID: MGI:3776030
• Synonyms: Vhl^R
• Gene: Vhl Location: Chr6:113600955-113608595 bp, + strand Genetic Position: Chr6, 52.81 cM
• Alliance: Vhl^tm1Mcs page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:130780
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A floxed neo cassette was inserted between exon 2 and and exon 3 that contained a nucleotide substitution that results in an amino acid substitution of tryphtophan for arginine at position 166 (R166W). The equivalent mutation in humans, R200W, diminishes binding to and regulation of HIF1A. The neo cassette was removed by germ-line cre-mediated recombination. (J:130780)

Disease models

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 Vhl Mutation: 16 strains or lines available

References

• Original: J:130780 Hickey MM, et al., von Hippel-Lindau mutation in mice recapitulates Chuvash polycythemia via hypoxia-inducible factor-2alpha signaling and splenic erythropoiesis. J Clin Invest. 2007 Dec;117(12):3879-89
• All: 6 reference(s)