Phenotypes associated with this allele

• Allele Symbol: Hadhb^m1Ytc
• Allele Name: mutation 1, Yuan-Tsong Chen
• Allele ID: MGI:3698125
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hadhb^m1Ytc/Hadhb^m1Ytc	C57BL/6J-Hadhb^m1Yuan	MGI:3698531

Genotype
MGI:3698531

hm1

• Allelic Composition: Hadhb^m1Ytc/Hadhb^m1Ytc
• Genetic Background: C57BL/6J-Hadhb^m1Yuan

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

mortality/aging

premature death ( J:117738 )

• die suddenly in the absence of preceding illness between 9 and 16 months of age

growth/size/body

slow postnatal weight gain ( 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

cardiovascular system

abnormal heart morphology ( J:117738 )

abnormal myocardial fiber morphology ( J:117738 )

• cardiomyocytes within the bundles exhibit occasionally small vacuoles and loss of sarcomere

cardiac fibrosis ( J:117738 )

• 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

abnormal cardiovascular system physiology ( J:117738 )

irregular heartbeat ( J:117738 )

• 7 of 9 show cardiac arrhythmias as early as 6 months of age

abnormal impulse conducting system conduction ( J:117738 )

• as early as 9 months of age, some mutants develop complete atrioventricular dissociation

prolonged PR interval ( J:117738 )

• display prolonged PR interval as early as 6 months of age and later develop complete atrioventricular dissociation

cardiomyopathy ( J:117738 )

• cardiomyopathy with increased fat accumulation

adipose tissue

abnormal brown adipose tissue morphology ( J:117738 )

• brown adipose tissue contains more abundant lipid accumulation than controls

liver/biliary system

hepatic steatosis ( 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

homeostasis/metabolism

decreased circulating glucose level ( J:117738 )

• 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

abnormal lipid homeostasis ( J:117738 )

• exhibit an elevation of long-chain acylcarnitine levels (a fatty acid intermediate)

muscle

abnormal myocardial fiber morphology ( J:117738 )

• cardiomyocytes within the bundles exhibit occasionally small vacuoles and loss of sarcomere

cardiomyopathy ( J:117738 )

• cardiomyopathy with increased fat accumulation

abnormal skeletal muscle morphology ( J:117738 )

• skeletal muscle shows a small increase of lipid in the muscle fibers

• otherwise, histopathology of the skeletal muscle appears normal