Phenotypes Associated with This Genotype

Genotype
MGI:7331489

• Allelic Composition: Sar1b^em2Emle/Sar1b⁺
• Genetic Background: C57BL/6N-Sar1b^em2Emle

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

homeostasis/metabolism

steatorrhea ( J:319817 )

• mice show an increase in fecal triglyceride levels indicating intestinal fat malabsorption

abnormal intestinal lipid absorption ( J:319817 )

• mice exhibit reduced triglyceride concentration after olive oil intragastric administration indicating intestinal fat malabsorption

• an increase in triglyceride and total cholesterol is seen in the gut following fat load

abnormal circulating non-HDL cholesterol level ( J:319817 )

• mice show an increase in non-HDL cholesterol

decreased circulating cholesterol level ( J:319817 )

decreased circulating HDL cholesterol level ( J:319817 )

decreased circulating triglyceride level ( J:319817 )

increased liver cholesterol level ( J:319817 )

• an increase in cholesterol is seen in the liver following fat load

abnormal lipid metabolism ( J:319817 )

• protein and gene expression analysis shows altered intestinal, but not liver, lipid metabolism, with a plausible enhancement of fatty acid beta-oxidation in the intestine and decline in lipogenesis process

decreased lipogenesis ( J:319817 )

• chylomicron lipid content shows lower triglyceride and total cholesterol content, indicating depressed chylomicron output

digestive/alimentary system

steatorrhea ( J:319817 )

• mice show an increase in fecal triglyceride levels indicating intestinal fat malabsorption

abnormal intestinal lipid absorption ( J:319817 )

• mice exhibit reduced triglyceride concentration after olive oil intragastric administration indicating intestinal fat malabsorption

• an increase in triglyceride and total cholesterol is seen in the gut following fat load

liver/biliary system

increased liver cholesterol level ( J:319817 )

• an increase in cholesterol is seen in the liver following fat load

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
chylomicron retention disease		DOID:0060357	OMIM:246700	J:319817