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A targeting vector consisting of a CAG promoter, loxP-stop-loxP (LSL) cassette and HA-tagged human VPS35 containing an aspartate to asparagine substitution at amino acid 620 (D620N) was inserted into the locus. The D620N mutation has been identified as a pathogenic mutation for late-onset autosomal dominant Parkinson's disease. (J:306945)
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：
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References Literature
Title
PMID
Journal
Year
IF
