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Targeted Allele Detail
Symbol: Vhltm1.1Wkr
Name: von Hippel-Lindau tumor suppressor; targeted mutation 1.1, WK Rathmell
MGI ID: MGI:4436910
Synonyms: Vhl2B
Gene: Vhl  Location: Chr6:113623959-113631633 bp, + strand  Genetic Position: Chr6, 52.81 cM
Germline Transmission:  Earliest citation of germline transmission: J:157369
Parent Cell Line:  J1 (ES Cell)
Strain of Origin:  129S4/SvJae
Allele Type:    Targeted (Humanized sequence, Inserted expressed sequence)
Mutation:    Insertion
Mutation detailsA 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 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)
View phenotypes for all genotypes (concatenated display).
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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:  6 strains or lines available
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:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.04
The Jackson Laboratory