过表达人类APP(hAPP)小基因,该小基因编码与家族性阿尔茨海默病相关的APP717V到F突变。构建包含了APP的6-8内含子,允许7和8号外显子的替代剪接。转染载体使用了血小板衍生生长因子(PDGF-b)驱动元件,实验在转基因小鼠中表达了hAPP mRNA的三种主要剪接形式。根据RNA酶保护分析,Line 109的APP表达量大约是之前描述的神经特异性酶(NSE)驱动APP转染基因的18倍。(来源:J:23080, J:100980)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
Not Specified
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1
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109

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

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PMID
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Year
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