Vhl^tm1.1Whkr
Targeted Allele Detail

Summary

• Symbol: Vhl^tm1.1Whkr
• Name: von Hippel-Lindau tumor suppressor; targeted mutation 1.1, Wilhelm Krek
• MGI ID: MGI:5529337
• Synonyms: Vhl^M1L
• Gene: Vhl Location: Chr6:113600955-113608595 bp, + strand Genetic Position: Chr6, 52.81 cM
• Alliance: Vhl^tm1.1Whkr page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:198361
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129

Mutation description

• Allele Type: Targeted (Modified isoform(s))
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Exon 1 was replaced with a modified exon 1 in which nucleotide substitutions (ATG to CTA) results in the amino acid substitution of leucine for methionine at position 1 (p.Met1Leu). This mutation prevents the expression of the long isoform. Cre-mediated recombination removed the floxed neomycin resistance cassette inserted downstream of the modified exon 1. Western blot analysis confirmed the absence of long isoform expression and increased expression of the short isoform in the kidney and liver. (J:198361)

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:198361 Frew IJ, et al., Genetic deletion of the long isoform of the von Hippel-Lindau tumour suppressor gene product alters microtubule dynamics. Eur J Cancer. 2013 Jul;49(10):2433-40
• All: 1 reference(s)