|
|
| Nomenclature |
|
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
|
|
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 (knock-in) |
|
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)
|
|
Phenotypes
|
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:
|
4 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: |
3 reference(s)
|
|
Analysis Tools
