Phenotypes Associated with This Genotype

Genotype
MGI:3622101

• Allelic Composition: Ldlr^Hlb301/Ldlr^Hlb301
• Genetic Background: C57BL/6J-Ldlr^Hlb301/J

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

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:82961 )

N • mice with this mutation do not develop xanthomas when fed a high fat, high cholesterol diet

N • mice with this mutation do not become obese when fed a high fat, high cholesterol diet

increased circulating cholesterol level ( J:82961 )

• on a chow diet, 14 week old homozygous mutant mice exhibit significantly higher total cholesterol levels than either heterozygous mutants or control C57BL/6J mice

• after 5 weeks on a high fat, high cholesterol diet, 14 week old homozygous mutant mice exhibit dramatically elevated levels of total serum cholesterol

increased circulating HDL cholesterol level ( J:82961 )

• on a chow diet, 14 week old homozygous mutant mice exhibit significantly higher HDL cholesterol levels than either heterozygous mutants or control C57BL/6J mice

• after 5 weeks on a high fat, high cholesterol diet, 14 week old homozygous mutant mice exhibit greatly elevated HDL cholesterol levels

cardiovascular system

increased susceptibility to atherosclerosis ( J:82961 )

• all mice with this mutation fed an atherogenic diet for 5 weeks develop severe aortic atherosclerosis with collagen deposition, atherosclerosis of the pulmonary arteries, and incipient lesions with foam cell accumulation in the coronary arteries

liver/biliary system

gallstones ( J:82961 )

• 14 week old homozygous mutants fed a high fat, high cholesterol diet for 5 weeks have a 50% prevalence of cholesterol gallstones

vision/eye

retina detachment ( J:82961 )

• observed in some homozygotes

hematopoietic system

increased macrophage derived foam cell number ( J:82961 )

• lesions with foam cell accumulations are seen in coronary arteries

immune system

increased macrophage derived foam cell number ( J:82961 )

• lesions with foam cell accumulations are seen in coronary arteries

cellular

increased macrophage derived foam cell number ( J:82961 )

• lesions with foam cell accumulations are seen in coronary arteries

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
familial hypercholesterolemia		DOID:13810	OMIM:143890	J:82961