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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Abcg8tm1Elk
targeted mutation 1, Eric L Klett
MGI:3514037
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Abcg8tm1Elk/Abcg8tm1Elk involves: 129S6/SvEvTac * C57BL/6J MGI:3514172
ht2
Abcg8tm1Elk/Abcg8+ involves: 129S6/SvEvTac * C57BL/6J MGI:3514177


Genotype
MGI:3514172
hm1
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 (30 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
adipose tissue
• less periorgan adipose tissue

homeostasis/metabolism
• phenotype was reversed when rodent chow was fortified with ezetimibe, a drug that blocks dietary sterol absorption by >90%
• 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

reproductive system
• phenotype was reversed when rodent chow was fortified with ezetimibe, a drug that blocks dietary sterol absorption by >90%
• phenotype was reversed when rodent chow was fortified with ezetimibe, a drug that blocks dietary sterol absorption by >90%

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 1 DOID:0090019 OMIM:210250
J:94759




Genotype
MGI:3514177
ht2
Allelic
Composition
Abcg8tm1Elk/Abcg8+
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 (30 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• plasma cholesterol level was decreased by 26%

liver/biliary system
• under conditions that force biliary sterol secretion, cholesterol secretion into bile was reduced relative to wild-type





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
11/12/2024
MGI 6.24
The Jackson Laboratory