Phenotypes Associated with This Genotype

Genotype
MGI:3622656

• Allelic Composition: Ldlr^tm1Her/Ldlr^tm1Her; Lep^ob/Lep^ob
• Genetic Background: B6.Cg-Lep^ob Ldlr^tm1Her

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

cardiovascular system

atherosclerotic lesions ( J:72027 )

• extensive atherosclerotic lesions throughout the aorta by 6 months of age

homeostasis/metabolism

abnormal circulating cholesterol level ( J:72027 )

• plasma contains severely elevated and broadened lipoprotein peak, ranging from VLDL/LDL-sized particles to LDL-sized particles

increased circulating cholesterol level ( J:72027 )

• age dependent increase in cholesterol levels between 1 and 4 months of age, with maximal values at 3-4 months of age (1715 mg/dl vs. 81 mg/dl in wild-type), followed by a gradual decrease by 8 months

• fasting, diet restriction, and low-level leptin treatment only slightly lowers plasma cholesterol levels

increased circulating HDL cholesterol level ( J:72027 )

• elevated at 3 and 8 months of age

increased circulating triglyceride level ( J:72027 )

• age dependent increase in triglyceride levels between 1 and 4 months of age, with maximal values at 3-4 months of age, followed by a gradual decrease by 8 months

• fasting, diet restriction, and low-level leptin treatment significantly lowers plasma triglyceride levels

hyperlipidemia ( J:72027 )

increased liver cholesterol level ( J:72027 )

• livers exhibit slightly, but significantly, higher levels of cholesterol

increased liver triglyceride level ( J:72027 )

• livers exhibit about 10x higher levels of triglyceride

liver/biliary system

increased liver cholesterol level ( J:72027 )

• livers exhibit slightly, but significantly, higher levels of cholesterol

increased liver triglyceride level ( J:72027 )

• livers exhibit about 10x higher levels of triglyceride

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
familial hypercholesterolemia		DOID:13810	OMIM:143890	J:72027