Phenotypes Associated with This Genotype

Genotype
MGI:3611042

• Allelic Composition: Ldlrap1^{Gt(OST149604)Lex}/Ldlrap1^{Gt(OST149604)Lex}
• Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

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

homeostasis/metabolism

increased circulating cholesterol level ( J:102291 )

• 1.8-fold increase in plasma total cholesterol levels, however plasma lipoprotein is normal

increased circulating LDL cholesterol level ( J:102291 )

• elevation of total cholesterol is attributed to a six-fold increase of LDL cholesterol

• in vivo clearance of ¹²⁵I-LDL from circulation is retarded, uptake of DiI-labled LDL by hepatocytes is decreased, and uptake of ³H-CE-labeled LDL by the liver is lower compared to wild-type, indicating decreased in vivo catabolic rate of LDL, however uptake of LDL by primary cultured hepatocytes in vitro is no different from wild-type

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive hypercholesterolemia		DOID:0090105	OMIM:603813	J:102291