Log In|Sign Up
EN
CRISPR/Cas9 technology generated a thymine to cytosine change at position 4033 (c.4033T>C) resulting in the substitution of histidine for tyrosine at residue 1345 (p.Y1345H). This corresponds to the Y1355H missense variant identified in a family with fatty liver disease. (J:330003)
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
