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Journal of Lipid Research, Vol 37, 1387-1405, Copyright © 1996 by Lipid Research, Inc.
K Reue and MH Doolittle
Naturally occurring mutations in the mouse provide a unique resource for
identifying genes and characterizing proteins involved in lipid metabolism.
Spontaneous mouse mutations have been described that affect various aspects
of lipid metabolism, including cellular cholesterol homeostasis, fatty acid
metabolism, serum lipoprotein levels, serum and tissue lipase activities,
and lipid composition of tissues such as liver, nerve, kidney, and adrenal
gland. Here we briefly describe the phenotypes and genetics of several
mutants with blood and tissue lipid abnormalities, and then provide a more
in-depth discussion of two mutations, fatty liver dystrophy (fld) and
combined lipase deficiency (cld). Mice homozygous for the fld mutation
exhibit fatty liver and hypertriglyceridemia during neonatal development,
and a peripheral neuropathy that progresses throughout the lifetime of the
animal. Combined lipase deficiency is characterized by a nearly complete
absence of lipoprotein lipase and hepatic lipase activity resulting in
neonatal lethality. Although the underlying genes for these two disorders
have yet to be identified, candidates that have been implicated through the
molecular and biochemical characterization of the mutants are discussed.
REVIEWS
Naturally occurring mutations in mice affecting lipid transport and metabolism
Lipid Research Laboratory, West Los Angeles VA Medical Center, CA, USA.
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