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中文
将携带人类PSEN1 A246E突变的cDNA插入到小鼠Thy1基因中。最终构建中，Thy1基因的编码序列和内含子1、2被突变的PSEN1序列替换，Thy1的5'神经特异性调控序列保持不变。微注射含线性化的小分子基因片段到FVB/N胚胎的前核。通过Northern和Western blot分别在总脑提取物中检测到突变PSEN1的mRNA和蛋白质。(文献来源：J:64209, J:100968)
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
