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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Amacrtm1Jkh
targeted mutation 1, J Kalervo Hiltunen
MGI:3044171
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Amacrtm1Jkh/Amacrtm1Jkh involves: 129S1/Sv * 129X1/SvJ MGI:3044685


Genotype
MGI:3044685
hm1
Allelic
Composition
Amacrtm1Jkh/Amacrtm1Jkh
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Amacrtm1Jkh mutation (0 available); any Amacr mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 1 in 7 homozygous mice die after 9 days on a phytol supplemented diet

adipose tissue
• 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
• 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

homeostasis/metabolism
• 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
• after 6 weeks on a phytol supplemented diet serum alkaline phosphatase levels areincreased 175% in homozygous mice compared to wild-type mice
• after 6 weeks on a phytol supplemented diet homozygous mice had decreased palmitic, oleic, and stearic acid concentrations
• after 6 weeks on a phytol supplemented diet homozygous mice had increased phytanic and pristanic acid concentrations
• after 6 weeks on a phytol supplemented diet triacylglycerols are reduced 52% in homozygous mice compared to wild-type mice

liver/biliary system
• after 6 weeks on a phytol supplemented diet liver size increases to a great extent in homozygous mice compared to wild-type mice
• 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
• the concentration of C24 bile acid species is reduced and the concentration of C27 bile acid precursors is increased 100 - 200 times

Mouse Models of Human Disease
OMIM ID Ref(s)
Alpha-Methylacyl-Coa Racemase Deficiency; AMACRD 614307 J:90370





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last database update
07/12/2016
MGI 6.04
The Jackson Laboratory