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Targeted Allele Detail
Symbol: Vhltm1Mcs
Name: von Hippel-Lindau tumor suppressor; targeted mutation 1, M Celeste Simon
MGI ID: MGI:3776030
Synonyms: VhlR
Gene: Vhl  Location: Chr6:113623959-113631633 bp, + strand  Genetic Position: Chr6, 52.81 cM
Germline Transmission:  Earliest citation of germline transmission: J:130780
Parent Cell Line:  J1 (ES Cell)
Strain of Origin:  129S4/SvJae
Allele Type:    Targeted (Hypomorph)
Mutations:    Insertion, Nucleotide substitutions
Mutation detailsA 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)
View phenotypes for all genotypes (concatenated display).
Disease models
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:  5 strains or lines available
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:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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