Log In|Sign Up
EN
CRISPR/Cas9 methodologies is used to incorporate an E344K (also designated E326K) (GAG to AAG) knock-in in exon 8 (NM_001077411.4) and 2 silent mutations: wildtype CCAAAGCTACTTTAGGAGAGACA to mutant CtAAgGCcACTTTAGGAAAGACA. This mutation corresponds to a human coding variant potentially associated with increased susceptibility to familial Parkinsons disease. (J:101977)
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
