一种人类PSEN1的cDNA,其编码区域的密码子发生改变,从甘氨酸(G384)变为异亮氨酸(A384),这种突变导致了G384A的变异。它被置于小鼠Thy1.2微基因的控制下。这种突变形式已知能增加β1-42的产生。(来源:J:92796, J:163811)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
Not Specified
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插入
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1
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17

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
Journal
Year
IF
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