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Allele : Optn<em1Hyua> optineurin; endonuclease-mediated mutation 1, Huiping Yuan

Primary Identifier  MGI:7278809 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Optn
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  Glutamic acid codon 50 (GAG) in exon 2 was changed to lysine (AAG) (c.148G>A p.E50K) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. This mutation, in the EMO (NF kappa B essential modulator) domain of the encoded peptide, replicates the same human mutation associated with normal-tension glaucoma (NTG).
  • mutations:
  • Single point mutation
  • synonyms:
  • OPTN (E50K),
  • OPTN (E50K)
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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