Phenotypes Associated with This Genotype

Genotype
MGI:3530641

• Allelic Composition: Lcat^tm1Nsa/Lcat⁺
• Genetic Background: involves: 129X1/SvJ * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

homeostasis/metabolism

abnormal cholesterol homeostasis ( J:39237 )

• on a regular chow diet, heterozygotes show a moderate reduction in the APOA1 containing HDL particles present in plasma relative to wild-type

• on a regular chow diet, the very low density lipoprotein fractions from heterozygotes are enriched in triglycerides

abnormal lipid level ( J:39237 )

• the plasma concentrations of apoA-I of fasted heterozygotes are significantly reduced relative to wild-type levels

decreased circulating cholesterol level ( J:39237 )

• in heterozygotes, the plasma concentrations of total cholesterol are significantly reduced relative to wild-type male and female levels

• the cholesteryl ester/total cholesterol ratio in heterozygous mutant and wild-type mice are 78-83% and 79-81%, respectively

decreased circulating HDL cholesterol level ( J:39237 )

• in heterozygotes, the plasma concentrations of HDL cholesterol are significantly reduced relative to wild-type levels

increased circulating triglyceride level ( J:39237 )

• in male heterozygotes, plasma triglyceride concentrations are 49% higher than those of wild-type males

• in female heterozygotes, triglyceride levels are not significantly different from those of wild-type females

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