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Allele : Crx<em1Smgc> cone-rod homeobox; endonuclease-mediated mutation 1, Shiming Chen

Primary Identifier  MGI:7576952 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Crx
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  Glutamic acid codon 80 (GAG) in exon 3 was changed to alanine (GCG) (p.E80A) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation, in the homeodomain (HD) of the encoded peptide, is the equivalent of the same human mutation associated with dominant cone-rod dystrophy 2 (CRD2).
  • mutations:
  • Single point mutation
  • synonyms:
  • Crx<E80A>,
  • Crx<E80A>
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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

3 Publication categories