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中文
在第259位，由arginine替换为glutamine(259CGG>CAG)，并在第5外显子下游258bp位置插入了一个由FRT引导的neo cassette，通过同源重组实现。通过Flp介导的重组，neo cassette被移除。这个插入突变等同于人类早发型帕金森病患者中的R258Q变异。这种变异在人类中消除了SAC域的磷酸酶活性。(来源：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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
