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Phenotypes Associated with This Genotype
Genotype
MGI:3611042
Allelic
Composition
Ldlrap1Gt(OST149604)Lex/Ldlrap1Gt(OST149604)Lex
Genetic
Background
involves: 129S5/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ldlrap1Gt(OST149604)Lex mutation (1 available); any Ldlrap1 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• 1.8-fold increase in plasma total cholesterol levels, however plasma lipoprotein is normal (J:102291)
• 1.8-fold increase in plasma total cholesterol levels, however plasma lipoprotein is normal (J:102291)
• elevation of total cholesterol is attributed to a six-fold increase of LDL cholesterol (J:102291)
• 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 (J:102291)
• elevation of total cholesterol is attributed to a six-fold increase of LDL cholesterol (J:102291)
• 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 (J:102291)

Mouse Models of Human Disease
OMIM ID Ref(s)
Hypercholesterolemia, Autosomal Recessive; ARH 603813 J:102291


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory