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A GAC to TAC change resulting in an aspartate to tyrosine substitution at amino acid 331 (D331Y) was generated in exon 7. A loxP-flanked neomycin selection cassette was inserted 401 nucleotides downstream of the start of exon 7. The neomycin selection cassette was removed via cre-mediated recombination. The p.Asp331Tyr is thought to be the causative mutation of Parkinson's disease 14 in patients. Western blot analysis confirmed similar cytosolic or mitochondrial protein expression as in wild-type mice, however enzyme activity is significantly decreased in the substantia nigra indicting loss of function. (J:317126)
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：
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References Literature
Title
PMID
Journal
Year
IF
