Log In|Sign Up
EN
CRISPR/Cas9 technology inserted an in-frame V5 tag and a premature stop codon at glycine 634 (p.Gly634) prior to the C2H2 zinc-finger domains. The V5 tag contains a spontaneously arising A>T mutation, resulting in the amino acid change Asn>Ile at position 5 in the V5 tag. RT-qPCR confirmed the presence of a truncated transcript. The stop codon at Gly634 corresponds to one of the brittle cornea syndrome mutations p.Gly677* in human. (J:311083)
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
