Log In|Sign Up
EN
CRISPR/Cas9 technology generated a misssense mutation T to A change at position 194 resulting in a valine to glutamate substitution at amino acid 65 (p.V65E). This corresponds to the human p.V66E missense mutation in the N-terminal homopentamer-forming domain identified in a family with carpal tunnel syndrome. (J:292033)
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
