Phenotypes Associated with This Genotype

Genotype
MGI:2670516

• Allelic Composition: Ldlrap1^tm1Her/Ldlrap1^tm1Her
• Genetic Background: involves: 129S6/SvEvTac

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

homeostasis/metabolism

abnormal circulating LDL cholesterol level ( J:84694 )

• LDL clearance is slowed

increased circulating LDL cholesterol level ( J:84694 )

• on a chow diet, plasma LDL levels were higher than those in wild-type mice but lower than those in Ldlr^tm1Her homozygous mutant mice

• little LDL accumulation on a normal diet

• on high cholesterol diets most plasma cholesterol is LDL

increased circulating cholesterol level ( J:84694 )

• plasma cholesterol is only mildly elevated (83mg/dl) on a normal diet

increased circulating triglyceride level ( J:84694 )

• plasma triglycerides increase more on a "wetern" diet than in Ldlr^tm1Her homozygous mutant mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive hypercholesterolemia		DOID:0090105	OMIM:603813	J:84694