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Allele : Cct2<em1Tiwata> chaperonin containing TCP1 subunit 2; endonuclease-mediated mutation 1, Takeshi Iwata

Primary Identifier  MGI:7782498 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Cct2
Strain of Origin  Not Specified Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/Cas9 technology generated an A to C change at position 1411 (c.1411A>C) resulting in a threonine to proline substitution at amino acid 400 (p.T400P). This is a missense mutation identified in individuals with Leber congenital amaurosis.
  • mutations:
  • Single point mutation
  • synonyms:
  • Cct2 T400P,
  • Cct2<em1Itwa>,
  • Cct2<em1Itwa>,
  • Cct2 T400P
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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

3 Publication categories

Trail: Allele