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| Nomenclature |
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Symbol:
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Vhltm1.1Wkr
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Name:
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von Hippel-Lindau tumor suppressor;
targeted mutation 1.1, WK Rathmell
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MGI ID: |
MGI:4436910 |
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Synonyms: |
Vhl2B |
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Gene:
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Vhl
Location:
Chr6:113623959-113631633 bp, + strand
Genetic Position: Chr6,
52.81 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:157369
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Parent Cell Line:
| J1 (ES Cell) |
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Strain of Origin:
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129S4/SvJae
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Insertion |
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Mutation details: A guanine to adenine transition at base 518 in exon3 causes a change in codon 167 and results in the replacement of arginine by glutamine in the resulting protein. A floxed neomycine 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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Vhl Mutation:
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4 strains or lines available |
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| References |
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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
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All: |
1 reference(s)
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Analysis Tools
