Phenotypes Associated with This Genotype

Genotype
MGI:6197548

• Allelic Composition: Pnpla3^tm2.1Hobb/Pnpla3^tm2.1Hobb
• Genetic Background: involves: 129 * C57BL/6J

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

adipose tissue

abnormal fat cell morphology ( J:264475 )

• an increase in the number of large lipid droplets is seen in mice on a high-sucrose diet

homeostasis/metabolism

increased liver triglyceride level ( J:264475 )

• mice exhibit a 2- to 3-fold increase in hepatic triglyceride content after 4 weeks on a high-sucrose diet, however on a high-fat diet, the increase in triglyceride levels is similar to controls

• however, levels of triglycerides, phosphatidylcholine, cholesteryl esters and free cholesterol in the livers of females fed a chow diet are normal and mice fed a high-fat diet exhibit a similar level to insulin resistance and glucose tolerance as controls

liver/biliary system

increased liver triglyceride level ( J:264475 )

• mice exhibit a 2- to 3-fold increase in hepatic triglyceride content after 4 weeks on a high-sucrose diet, however on a high-fat diet, the increase in triglyceride levels is similar to controls

• however, levels of triglycerides, phosphatidylcholine, cholesteryl esters and free cholesterol in the livers of females fed a chow diet are normal and mice fed a high-fat diet exhibit a similar level to insulin resistance and glucose tolerance as controls

hepatic steatosis ( J:264475 )

• mice develop fatty liver when fed a high-sucrose or high-fat diet

• however, no changes in circulating liver enzymes are seen in high-sucrose fed mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
metabolic dysfunction-associated steatotic liver disease		DOID:0080208	OMIM:613282 OMIM:613387	J:264475