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An arginine to glutamine substitution was introduced at position 259 (CGG > CAG) and an FRT flanked neo cassette was inserted 258bp downstream of exon 5 via homologous recombination. Flp-mediated recombination removed the neo cassette. The inserted mutation corresponds to the human R258Q mutation in early onset Parkinson patients. This mutation abolishes the phosphatase activity of the SAC domain in humans. (J:256037)
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
