Combined Lipase Deficiency (cld): A Lethal Mutation on Chromosome 17 of the Mouse

Two triglyceride lipases, lipoprotein lipase and hepatic triglyceride lipase, participate in the metabolism of plasma lipoproteins. A single recessive mutation, cld, on mouse chromosome 17 causes an apparent deficiency of both lipoprotein lipase and hepatic triglyceride lipase activities. Mice homoz...

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Bibliographic Details
Published in:Science (American Association for the Advancement of Science) 1983-07, Vol.221 (4606), p.167-169
Main Authors: Paterniti, James R., Brown, W. Virgil, Ginsberg, Henry N., Artzt, Karen
Format: Article
Language:English
Subjects:
Animals
Blood plasma
Cholesterol - blood
Cholesterols
Chromosomes
Enzymes
Genetic mutation
Lipase - deficiency
Lipase - genetics
Lipid metabolism
Lipoprotein Lipase - deficiency
Lipoprotein Lipase - genetics
Lipoproteins
Lipoproteins - metabolism
Liver
Mice
Mutation
Triglycerides
Triglycerides - blood
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Description
Summary:Two triglyceride lipases, lipoprotein lipase and hepatic triglyceride lipase, participate in the metabolism of plasma lipoproteins. A single recessive mutation, cld, on mouse chromosome 17 causes an apparent deficiency of both lipoprotein lipase and hepatic triglyceride lipase activities. Mice homozygous for this defect develop lethal hyperchylomicronemia within 2 days postpartum as a consequence of nursing. Plasma triglyceride values in affected mice often reach 20,000 milligrams per deciliter (100 times higher than that in normal littermates), and total lipase activity in plasma or tissues is 5 to 20 percent of that in controls.
ISSN:0036-8075
1095-9203
DOI:10.1126/science.6857276