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Allele : Ano5<em2Huyi> anoctamin 5; endonuclease-mediated mutation 2, Ying Hu

Primary Identifier  MGI:7491944 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Ano5
Strain of Origin  C57BL/6 Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/Cas9 technology generated a G to A change at position 1080 (corresponds to c.1079G>A on GRC39) resulting in a cysteine to tyrosine substitution at amino acid 360 (p.C360Y) in exon 11. This mutation cosegregates with gnathodiaphyseal dysplasia in a Han-Chinese family.
  • mutations:
  • Single point mutation
  • synonyms:
  • Ano5<KI>,
  • Ano5<Cys360Tyr>,
  • Ano5<Cys360Tyr>,
  • Ano5<KI>
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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

4 Publication categories