title: Characterization of lpd (lipid defect): a novel mutation on mouse chromosome 16 associated with a defect in triglyceride metabolism.
abstract: Recent epidemiological studies have identified plasma triglyceride as a risk factor for atherogenesis. We have generated a mouse transgenic line that carries a recessive mutation designated lpd (lipid defect). Homozygous lpd mice develop as runts and die by age 10-15 days with striking liver pathology characterized by the presence of numerous lipid-containing vacuoles and extensive accumulation of triglycerides. Cloning of the mutant insertion locus and the wild-type lpd locus have revealed a duplication of host genomic sequences at the site of integration. Mapping of the lpd locus with the Jackson Laboratory BSS interspecific backcross panel of (C57BL/6JEi x SPRET/Ei) F1 x SPRET/Ei placed the lpd locus to the distal part of chromosome 16. These observations suggest that the transgene disrupts a putative gene at the lpd locus and that lpd is a novel locus related to triglyceride metabolism. The lpd mutant mice may serve as models for human disorders of fatty livers or hypertriglyceridemia.
authors.affiliation: Division of Molecular and Developmental Biology, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario M5G 1X5, Canada. x.wen@utoronto.ca
authors.forename: X Y
authors.initials: XY
authors.lastname: Wen
authors.forename: D M
authors.initials: DM
authors.lastname: Bryce
authors.forename: M L
authors.initials: ML
authors.lastname: Breitman
mesh_terms: D000818:Animals; D015139:Blotting, Southern; D002784:Cholesterol / Q000097:blood; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D004195:Disease Models, Animal; D008099:Liver / Q000378:metabolism / Q000473:pathology; D051379:Mice; D008822:Mice, Transgenic; D005810:Multigene Family; D016296:Mutagenesis; D009154:Mutation; D014280:Triglycerides / Q000378:metabolism*
chemical_list: D014280:Triglycerides; D002784:Cholesterol