Log In|Sign Up
EN
The transgene insert contains the murine prion protein promoter and FLAG tag sequence in-frame with human CHCHD2 cDNA with a mutation that changes threonine codon 61(ACC) to isoleucine (ATC) (c.182C>T p.T61I). The mutation is found in some autosomal dominant Parkinson's disease (PD) patients. (J:340965)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
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
