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Allele : Vhl<em1.1Yxy> von Hippel-Lindau tumor suppressor; endonuclease-mediated mutation 1.1, Yuxin Yin

Primary Identifier  MGI:7572492 Allele Type  Endonuclease-mediated
Attribute String  Not Specified Gene  Vhl
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/Cas9 technology replaced exon 2 with a modified exon 2 containing an A to T missense mutation (c.349A>T) which results in an isoleucine to phenylalanine substitution at amino acid 117 (p.I117F) and a loxP-flanked neomycin-resistance gene following the mutant exon 2. The neomycin resistance gene was removed via cre-mediated recombination. The p.I117F mutation correlates to the p.I151F mutation in human.
  • mutations:
  • Insertion,
  • Single point mutation
  • synonyms:
  • Vhl<mu>,
  • Vhl<mu>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

2 Publication categories

Trail: Allele