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Phenotypes Associated with This Genotype
Genotype
MGI:3698531
Allelic
Composition
Hadhbm1Yuan/Hadhbm1Yuan
Genetic
Background
C57BL/6J-Hadhbm1Yuan
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
mortality/aging
• die suddenly in the absence of preceding illness between 9 and 16 months of age (J:117738)
• die suddenly in the absence of preceding illness between 9 and 16 months of age (J:117738)

growth/size/body
• 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 (J:117738)
• 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 (J:117738)

cardiovascular system
• cardiomyocytes within the bundles exhibit occasionally small vacuoles and loss of sarcomere (J:117738)
• cardiomyocytes within the bundles exhibit occasionally small vacuoles and loss of sarcomere (J:117738)
• multifocal cardiac fibrosis, where bundles of myocardial fibers are embedded in the dense fibrous tissue (J:117738)
• focal fibrosis is in both the ventricles and in the interventricular septum (J:117738)
• multifocal cardiac fibrosis, where bundles of myocardial fibers are embedded in the dense fibrous tissue (J:117738)
• focal fibrosis is in both the ventricles and in the interventricular septum (J:117738)
• 7 of 9 show cardiac arrhythmias as early as 6 months of age (J:117738)
• 7 of 9 show cardiac arrhythmias as early as 6 months of age (J:117738)
• as early as 9 months of age, some mutants develop complete atrioventricular dissociation (J:117738)
• as early as 9 months of age, some mutants develop complete atrioventricular dissociation (J:117738)
• display prolonged PR interval as early as 6 months of age and later develop complete atrioventricular dissociation (J:117738)
• display prolonged PR interval as early as 6 months of age and later develop complete atrioventricular dissociation (J:117738)
• cardiomyopathy with increased fat accumulation (J:117738)
• cardiomyopathy with increased fat accumulation (J:117738)

adipose tissue
• brown adipose tissue contains more abundant lipid accumulation than controls (J:117738)
• brown adipose tissue contains more abundant lipid accumulation than controls (J:117738)

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 (J:117738)
• 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 (J:117738)

homeostasis/metabolism
• mutants are unable to maintain fasting blood glucose levels as controls, showing a decline in glucose after 24 hours of fasting (J:117738)
• however, under normal non-fasting conditions, blood glucose levels are normal (J:117738)
• mutants are unable to maintain fasting blood glucose levels as controls, showing a decline in glucose after 24 hours of fasting (J:117738)
• however, under normal non-fasting conditions, blood glucose levels are normal (J:117738)
• exhibit an elevation of long-chain acylcarnitine levels (a fatty acid intermediate) (J:117738)
• exhibit an elevation of long-chain acylcarnitine levels (a fatty acid intermediate) (J:117738)

muscle
• cardiomyocytes within the bundles exhibit occasionally small vacuoles and loss of sarcomere (J:117738)
• cardiomyocytes within the bundles exhibit occasionally small vacuoles and loss of sarcomere (J:117738)
• cardiomyopathy with increased fat accumulation (J:117738)
• cardiomyopathy with increased fat accumulation (J:117738)
• skeletal muscle shows a small increase of lipid in the muscle fibers (J:117738)
• otherwise, histopathology of the skeletal muscle appears normal (J:117738)
• skeletal muscle shows a small increase of lipid in the muscle fibers (J:117738)
• otherwise, histopathology of the skeletal muscle appears normal (J:117738)

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


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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory