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EN
cDNA encoding the human PSEN1 sequence containing the A246E mutation was ligated into the mouse Thy1 gene. In the final construct, coding sequences and introns 1 and 2 of the Thy1 gene are replaced by the mutant PSEN1 sequence, with the 5' neuron-specific control sequences of Thy1 intact. Linearized minigenes are microinjected into prenuclear FVB/N embryos. Mutant PSEN1 mRNA and protein are detected in total brain extracts by Northern and Western blotting, respectively. (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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References Literature
Title
PMID
Journal
Year
IF
