Phenotypes associated with this allele

• Allele Symbol: Ldlr^Hlb301
• Allele Name: heart, lung and blood 301
• Allele ID: MGI:2683091
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ldlr^Hlb301/Ldlr^Hlb301	C57BL/6J-Ldlr^Hlb301/J	MGI:3622101
ht2	Ldlr^Hlb301/Ldlr^+	C57BL/6J-Ldlr^Hlb301/J	MGI:3622102

Genotype
MGI:3622101

hm1

• 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

Genotype
MGI:3622102

ht2

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

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 heterozygous mutant female, but not male, mice exhibit significantly (p<=0.05) greater elevation of total serum cholesterol than do C57BL/6J controls

• after 5 weeks on a high fat, high cholesterol diet, 14 week old heterozygous mutant mice exhibit significantly (p<=0.05) greater elevation of total serum cholesterol than do C57BL/6J control mice; heterozygous G3 female mice (N=4) exhibited, on average, 4.5-fold baseline levels of total cholesterol, versus 2.5-fold baseline for controls

increased circulating HDL cholesterol level ( J:82961 )

• on a chow diet, 14 week old heterozygous mutant female, but not male, mice exhibit significantly (p<=0.05) greater elevation of HDL cholesterol than do C57BL/6J controls

• after 5 weeks on a high fat, high cholesterol diet, 14 week old heterozygous mutant mice exhibit significantly (p<=0.05) greater elevation of HDL cholesterol than do C57BL/6J control mice

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

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