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中文
一个包含完整人类presenilin-1基因的1000kb YAC转基因(788H12)被修改，加入了与Familial Alzheimer's Disease(AD)-相关的His到Arg的替换，位于第163位(163R)。转基因还包括大约550kb的上游和350kb的下游DNA。多组织的半定量RT-PCR结果显示，H163R突变的人类mRNA表达量大约是野生型小鼠转录本的50-70%。转基因组织表达多种人类presenilin-1的mRNA和蛋白质种类，检测到了带有或不带VRSQ四肽的多种剪接的人类presenilin 1 mRNA，而 Western blot分析则显示了18-kDa的C端肽积累。(来源：J:58050)
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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References Literature
Title
PMID
Journal
Year
IF
