Log In|Sign Up
EN
CRISPR/Cas9 technology generated a CT to TG substitution (c.1622-1623CT>TG) resulting in a threonine to methionine change at amino acid 541 (p.T541M) in exon 14. A c.1632G>A synonymous mutation was also introduced. This corresponds to the p.Thr539Met mutation identified in a human female with primary infertility. (J:342437)
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
