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中文
这个转基因构建包含了人类GBA基因，由CMV增强子/鸡β-actin启动子指导，插入了兔B-球蛋白内含子序列和兔球蛋白的polyA位点（pCAGEN启动子）。GBA基因通过定点突变(c.1448T>C)被修改，导致第483位的Leucine替换为Proline，即L444P变异。（来源：J:266060）
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
