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The targeting construct inserted into the locus a wild-type human cDNA preceded by the cytomegalovirus early enhancer/chicken beta-actin promoter (CAG) element and a neomycin resistance cassette with a triple polyadenylation site flanked by loxP sites. Cre-mediated recombination removed the neomycin resistance cassette and allowed for expression of the human cDNA. Western blotting and ELISA indicate a fourfold elevation in SORL1 in the cortex and hippocampus of adult heterozygotes. (J:213687)
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
