Log In|Sign Up
EN
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). (J:303304)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
Show/Hide columns
| Phenotypes |
|---|
References Literature
Title
PMID
Journal
Year
IF
