Phenotypes Associated with This Genotype

Genotype
MGI:5695549

• Allelic Composition: Abcd3^tm1Safe/Abcd3^tm1Safe
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

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

cellular

abnormal peroxisome morphology ( J:217065 )

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

growth/size/body

enlarged liver ( J:217065 )

• liver size is increased approximately 2-fold compared to controls

• no sign of increased hepatic fat or fluid is detected

liver/biliary system

enlarged liver ( J:217065 )

• liver size is increased approximately 2-fold compared to controls

• no sign of increased hepatic fat or fluid is detected

abnormal bile composition ( J:217065 )

• 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

abnormal blood homeostasis ( J:217065 )

• 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