A construct carrying a 27-kb genomic fragment containing the human APOE*3-Leiden gene and endogenous promoter, the APOCl gene, and the complete intergenic region between APOCl and the APOCl pseudogene, harboring the postulated liver regulatory element, 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. This transgenic line carries approximately 4 copies of the transgene. Expression of APOE*3 and APOC1 mRNA and protein is detectable in liver of transgenic mice and not in kidney. Two other transgenic lines, 181 and 195, were also generated. (J:109205)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
(C57BL/6J x CBA/J)F1
--
Insertion
--
2
--
85

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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