A construct carrying a genomic fragment containing the human APOE*3 gene and endogenous promoter, and the intergenic region between APOCl and the APOCl pseudogene, harboring the postulated liver regulatory element (HCR, hepatic control region), was used to create transgenic mice. The human APOE*3-Leiden mutation is characterized by a tandem duplication of codons 120-126 and yields a mature protein of 306 amino acid residues. Northern blotting analysis indicates that this transgene is expressed in the liver. (J:128838)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
(C57BL/6J x CBA/J)F1
--
Insertion
--
1
--
8

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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