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Allele : Vhl<tm1Mcs> von Hippel-Lindau tumor suppressor; targeted mutation 1, M Celeste Simon

Primary Identifier  MGI:3776030 Allele Type  Targeted
Attribute String  Hypomorph Gene  Vhl
Transmission  Germline Strain of Origin  129S4/SvJae
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Insertion,
  • Nucleotide substitutions
  • synonyms:
  • Vhl<R>,
  • Vhl<R>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

9 Publication categories