Mouse Genome Informatics
hm
    Lcattm1Nsa/Lcattm1Nsa
involves: 129X1/SvJ * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
homeostasis/metabolism
• on a regular chow diet, homozygotes show a severe reduction in the apoA-I-containing HDL particles present in plasma relative to wild-type; in contrast, apoA-I-containing pre-beta HDL lipoproteins are significantly increased and very heterogeneous in size
• on a regular chow diet, the size and levels of alpha-migrating lipoproteins are significantly decreased relative to wild-type
• on a regular chow diet, the very low density lipoprotein fractions from homozygotes are enriched in triglycerides
• on a regular chow diet, homozygotes accumulate a smaller, cholesterol-poor apoA-I-containing particle whose major lipids are made of of phospholipids
• the plasma concentrations of apoA-I of fasted homozygotes are reduced to ~13% of wild-type male and female levels
• in homozygotes, the plasma concentrations of total cholesterol are reduced to ~24% of wild-type male and female levels
• the cholesteryl ester/total cholesterol ratio in homozygous mutant and wild-type mice are 34-52% and 79-81%, respectively, reflecting loss of LCAT-mediated cholesterol esterification
• after 3 weeks on a high-fat high-cholesterol diet, homozygotes exhibit significantly reduced plasma concentrations of total cholesterol, reflecting lower levels of both proatherogenic apoB-containing lipoproteins as well as HDL, relative to wild-type mice
• in homozygotes, the plasma concentrations of HDL cholesterol are reduced to ~7% of wild-type levels
• in male homozygotes, plasma triglyceride concentrations are 112% higher than those of wild-type males
• in female homozygotes, triglyceride levels are not significantly different from those of wild-type females, despite a marked variability in plasma triglyceride concentrations that range from 58 mg/dl to 322 mg/dl

renal/urinary system
N
• at the age of 2-3 months, analysis of plasma albumin, blood urea nitrogen and creatinine levels shows no evidence of renal insufficiency in mutant mice (J:39237)

vision/eye
N
• at the age of 2-3 months, slit lamp analysis shows no evidence of corneal opacities in mutant mice (J:39237)

Mouse Models of Human Disease
OMIM IDRef(s)
Fish-Eye Disease; FED 136120 J:39237
Lecithin:cholesterol Acyltransferase Deficiency 245900 J:39237