Phenotypes Associated with This Genotype

Genotype
MGI:3044685

• Allelic Composition: Amacr^tm1Jkh/Amacr^tm1Jkh
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

mortality/aging

increased susceptibility to induced morbidity/mortality ( J:90370 )

• 1 in 7 homozygous mice die after 9 days on a phytol supplemented diet

adipose tissue

decreased total body fat amount ( J:90370 )

• after 6 weeks on a phytol supplemented diet the fatpads in homozygous mice are 62% smaller than in homozygous mice on a normal chow diet

growth/size/body

increased susceptibility to weight loss ( J:90370 )

• after 6 weeks on a phytol supplemented diet homozygous mice weigh 10% less than wild-type mice while no weight difference is detected on a normal chow diet

enlarged liver ( J:90370 )

• after 6 weeks on a phytol supplemented diet liver size increases to a great extent in homozygous mice compared to wild-type mice

homeostasis/metabolism

abnormal circulating cholesterol level ( J:90370 )

• cholesterol concentrations are about 50% lower on either a normal chow diet or a phytol supplemented diet in homozygous mice compared to wild-type mice

increased circulating alkaline phosphatase level ( J:90370 )

• after 6 weeks on a phytol supplemented diet serum alkaline phosphatase levels areincreased 175% in homozygous mice compared to wild-type mice

decreased fatty acids level ( J:90370 )

• after 6 weeks on a phytol supplemented diet homozygous mice had decreased palmitic, oleic, and stearic acid concentrations

increased fatty acids level ( J:90370 )

• after 6 weeks on a phytol supplemented diet homozygous mice had increased phytanic and pristanic acid concentrations

decreased triglyceride level ( J:90370 )

• after 6 weeks on a phytol supplemented diet triacylglycerols are reduced 52% in homozygous mice compared to wild-type mice

liver/biliary system

hepatic necrosis ( J:90370 )

• after 6 weeks on a phytol supplemented diet livers of homozygous mice display accumulation of lymphocytes and Kupffer's cells, multivacuolar degeneration, and coagulation necrosis

• proliferation of enlarged and unevenly shaped smooth endoplasmic reticulum and peroxisomes is also seen

enlarged liver ( J:90370 )

• after 6 weeks on a phytol supplemented diet liver size increases to a great extent in homozygous mice compared to wild-type mice

abnormal bile composition ( J:90370 )

• the concentration of C24 bile acid species is reduced and the concentration of C27 bile acid precursors is increased 100 - 200 times

cellular

hepatic necrosis ( J:90370 )

• after 6 weeks on a phytol supplemented diet livers of homozygous mice display accumulation of lymphocytes and Kupffer's cells, multivacuolar degeneration, and coagulation necrosis

• proliferation of enlarged and unevenly shaped smooth endoplasmic reticulum and peroxisomes is also seen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
alpha-methylacyl-CoA racemase deficiency		DOID:0060602	OMIM:614307	J:90370