Mice with this knock-in mutation express a catalytically inactive human hepatic lipase (LIPC) under control of the regulatory sequences of the endogenous mouse Lipc gene and the downstream hepatic control sequence from the human apolipoprotein E (APOE) gene. A human LIPC cDNA in which an A-to-G transition at nucleotide position 559 results in replacement of the catalytic serine at amino acid position 145 of the enzyme by glycine (S145G) was inserted in-frame into exon 2 of the mouse gene following the translation initiating ATG codon. A loxP-flanked neomycin selection cassette has been deleted by Cre recombinase-mediated recombination. Western blot analysis using a rabbit polyclonal anti-human LIPC antiserum confirmed the presence of immunoreactive human hepatic lipase in sera of mice bearing this allele. Analysis of postheparin plasma detected no hepatic lipase activity in homozygous mutant mice. (J:229079, J:229080)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6
Targeted
Insertion, Single point
Recessive
1
5
2

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

Title
PMID
Journal
Year
IF
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