About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:3530620
Allelic
Composition
Lcattm1Nsa/Lcattm1Nsa
Genetic
Background
involves: 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lcattm1Nsa mutation (1 available); any Lcat mutation (25 available)
phenotype observed in females
phenotype observed in males
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

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

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Norum disease DOID:1391 OMIM:245900
J:39237


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
03/19/2024
MGI 6.23
The Jackson Laboratory