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Phenotypes Associated with This Genotype
Genotype
MGI:5695549
Allelic
Composition
Abcd3tm1Safe/Abcd3tm1Safe
Genetic
Background
involves: 129S4/SvJae * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abcd3tm1Safe mutation (0 available); any Abcd3 mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• liver size is increased approximately 2-fold compared to controls
• no sign of increased hepatic fat or fluid is detected

cellular
• decrease in the number and increase in the size of peroxisomes in cultured skin fibroblasts

liver/biliary system
• liver size is increased approximately 2-fold compared to controls
• no sign of increased hepatic fat or fluid is detected
• reduction in mature C24 bile acids (174 +/- 111 nmol/g compared to 306 +/- 113 nmol/g in the liver in wild-type controls)
• reduction in both taurine-conjugated cholic acid and taurine-conjugated muri-cholic acid, with 33% and 22% of C24 bile acids unconjugated in the liver and bile, respectively compared to 5% and 2% in wild-type controls
• increase in C27 bile acid level in the liver, bile and intestines
• increased levels of taurine-conjugated and unconjugated DHCA,THCA and OH-THCA

homeostasis/metabolism
• on a phytol diet mice show a marked accumulation of phytanic and pristanic acid in the plasma

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
congenital bile acid synthesis defect 5 DOID:0111066 OMIM:616278
J:217065


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