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Allele : Rhbdf2<em2Mvw> rhomboid 5 homolog 2; endonuclease-mediated mutation 2, Michael Wiles
Primary Identifier  MGI:6119764 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Rhbdf2
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/Cas9-mediated mutagenesis created a leucine for proline substitution at amino acid 159 which is equivalent to the human tylosis p.P189L mutation.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • iR2<toc>,
  • Rhbdf2<P159L>,
  • Rhbdf2<P159L>,
  • iR2<toc>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

5 Publication categories





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