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Phenotypes Associated with This Genotype
Genotype
MGI:3693216
Allelic
Composition
Acadmtm1Uab/Acadmtm1Uab
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acadmtm1Uab mutation (1 available); any Acadm mutation (39 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Histopathology of wild-type and Acadmtm1Uab/Acadmtm1Uab mice.

mortality/aging
• about 60% of homozygous animals are lost prior to weaning, compared to about 2% of wild-type

homeostasis/metabolism
• after an 18 hour fast, mutants placed at 4 degrees for 3 hours have an average rectal temperature of 23.4 degrees Celsius vs 35 degrees for wild-type; some fatalities occurred in mice (3/5) with temperatures of 16.7-19.2 degrees Celsius
• mutants have significantly elevated levels of organic acids such as adipic, suberic and sebaic acids
• levels of serum decenoylcarnitine are elevated 5- to 6-fold in mutants
• serum levels are lower than in wild-type; however, this is not statistically significant

cardiovascular system
• multifocal degeneration of elastic tissue in aorta at base of heart is observed in severely affected mice
• this is accompanied by multifocal collections of globular translucent yellow-brown pigment (ceroid lipofuscin); similar deposits are scattered within adjacent adipose tissue
• degenerating myocytes may display swelling and replacement of myocardial fibrils with finely granular eosinophilic material
• nuclei of affected myocytes are large, pale, and vesicular with prominent nucleoli
• some mutants show cardiomyopathy with chronic multifocal myocyte degeneration and necrosis
• in severely affected regions, fibrosis accompanies myocyte loss
• multiple mutants display diffuse cardiomyopathy

liver/biliary system
• after a 24 hour fast, 6-8 week-old mutants exhibit diffuse macrovesicular hepatic steatosis
• after a 24 hour fast, 6-8 week-old mutants exhibit diffuse microvesicular hepatic steatosis

muscle
• degenerating myocytes may display swelling and replacement of myocardial fibrils with finely granular eosinophilic material
• nuclei of affected myocytes are large, pale, and vesicular with prominent nucleoli
• some mutants show cardiomyopathy with chronic multifocal myocyte degeneration and necrosis
• multiple mutants display diffuse cardiomyopathy

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
medium chain acyl-CoA dehydrogenase deficiency DOID:0080153 OMIM:201450
J:115759


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
03/12/2024
MGI 6.23
The Jackson Laboratory