Allele/Variant

Optnem1Hyua

Species
Mus musculus
Symbol
Optnem1Hyua
Category
allele
Allele of gene
Optn
Transgenic Constructs
None
Synonyms
  • OPTN (E50K)
Description
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).
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations