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中文
这个基因通过同源重组的方式，用PGK-neo cassette替换了exon 3，导致了突变。目标变异删除了PP1c结合域的549-657位点。在纯合突变纤维细胞的 Western blot 分析中，检测到了一个截短的蛋白质产物。通过免疫沉淀分析，证实了蛋白活性的缺失。（来源：J:82255）
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 |
|---|
References Literature
Title
PMID
Journal
Year
IF
