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Phenotypes Associated with This Genotype
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hadhbm1Yuan mutation (0 available); any Hadhb mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• die suddenly in the absence of preceding illness between 9 and 16 months of age

• exhibit a decrease in weight gain that becomes obvious after about 3-4 months of age, with mutants weighing on average, 15% less than controls

cardiovascular system
• cardiomyocytes within the bundles exhibit occasionally small vacuoles and loss of sarcomere
• multifocal cardiac fibrosis, where bundles of myocardial fibers are embedded in the dense fibrous tissue
• focal fibrosis is in both the ventricles and in the interventricular septum
• 7 of 9 show cardiac arrhythmias as early as 6 months of age
• as early as 9 months of age, some mutants develop complete atrioventricular dissociation
• display prolonged PR interval as early as 6 months of age and later develop complete atrioventricular dissociation
• cardiomyopathy with increased fat accumulation

adipose tissue
• brown adipose tissue contains more abundant lipid accumulation than controls

liver/biliary system
• increase in number and size of lipid droplets in hepatocytes is seen as early as 6 months of age and further increases as mice age

• mutants are unable to maintain fasting blood glucose levels as controls, showing a decline in glucose after 24 hours of fasting
• however, under normal non-fasting conditions, blood glucose levels are normal
• exhibit an elevation of long-chain acylcarnitine levels (a fatty acid intermediate)

• cardiomyocytes within the bundles exhibit occasionally small vacuoles and loss of sarcomere
• cardiomyopathy with increased fat accumulation
• skeletal muscle shows a small increase of lipid in the muscle fibers
• otherwise, histopathology of the skeletal muscle appears normal

Mouse Models of Human Disease
OMIM ID Ref(s)
Mitochondrial Trifunctional Protein Deficiency; MTPD 609015 J:117738

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.01
The Jackson Laboratory