Log In|Sign Up
EN
CRISRP/Cas9 technology generated a valine to methionine substitution at amino acid 3684 (p.V3684M). This corresponds to the human pathogenic p.V3687M variant identified in a family with slowly progressive focal segmental glomerulosclerosis. (J:338953)
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
