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Phenotypes Associated with This Genotype
Genotype
MGI:3514172
Allelic
Composition
Abcg8tm1Elk/Abcg8tm1Elk
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abcg8tm1Elk mutation (1 available); any Abcg8 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• 8-fold increase of plasma campesterol relative to controls
• 36-fold increase of plasma sitosterol relative to controls
• higher triglyceride levels in fasted mutants fed a regular diet
• decrease in plasma, liver, and spleen cholesterol levels
• 52% decrease in plasma cholesterol levels

liver/biliary system
• 50% decrease in liver cholesterol content
• 5-fold and 22-fold increase in liver campesterol and sitosterol content, respectively
• reduced biliary sterol and phospholipid content
• under conditions that force biliary sterol secretion, cholesterol secretion into bile was diminished but sitosterol and campesterol secretion was maintained

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
sitosterolemia DOID:0090019 OMIM:210250
J:94759


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
08/09/2022
MGI 6.21
The Jackson Laboratory