Phenotypes Associated with This Genotype

Genotype
MGI:5906919

• Allelic Composition: Tg(Myh6-Rxra)41Pcn/0
• Genetic Background: Not Specified

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

mortality/aging

premature death ( J:60351 )

• about 20% of mice die over a period of 1 year

• death occurs either suddenly or is preceded by general weakness, dyspnea, and lack of food and water intake

cardiovascular system

abnormal myocardial fiber morphology ( J:60351 )

• myocardium shows many necrotic cardiomyocytes showing loss of myofibrils and nuclear destruction

• abnormal myofibril organization in cardiomyocytes is abnormal and myofibrils are thinner

• shape of the nuclei in myocytes is often altered, showing numerous deep indentations

• however, hypertrophy of cardiac myocytes is not seen

myocardial fiber degeneration ( J:60351 )

• swelling of cardiomyocytes, absence of compaction of the myofibrils and loss of myofibrils resulting in a relative increase of intervening sarcoplasm and a more dispersed arrangement of mitochondria, and necrolysis in cardiomyocytes

enlarged heart ( J:60351 )

• enlarged hearts, with all 4 chambers dilated

dilated cardiomyopathy ( J:60351 )

cellular

abnormal respiratory electron transport chain ( J:60351 )

• activity of the respiratory chain complex I and complex II are reduced in diseased hearts, indicating mitochondrial dysfunction

homeostasis/metabolism

abnormal cardiac thrombosis ( J:60351 )

• intracavitary thrombi are present in the atria and/or ventricles

pleural effusion ( J:60351 )

muscle

abnormal myocardial fiber morphology ( J:60351 )

• myocardium shows many necrotic cardiomyocytes showing loss of myofibrils and nuclear destruction

• abnormal myofibril organization in cardiomyocytes is abnormal and myofibrils are thinner

• shape of the nuclei in myocytes is often altered, showing numerous deep indentations

• however, hypertrophy of cardiac myocytes is not seen

myocardial fiber degeneration ( J:60351 )

• swelling of cardiomyocytes, absence of compaction of the myofibrils and loss of myofibrils resulting in a relative increase of intervening sarcoplasm and a more dispersed arrangement of mitochondria, and necrolysis in cardiomyocytes

dilated cardiomyopathy ( J:60351 )

abnormal sarcomere morphology ( J:60351 )

• cardiomyocyte myofibrils often show reduced sarcomeric length

abnormal M line morphology ( J:60351 )

• M lines of cardiomyocyte myofibrils are poorly defined

abnormal Z line morphology ( J:60351 )

• Z lines are occasionally duplicated in cardiomyocyte myofibrils

respiratory system

pleural effusion ( J:60351 )

growth/size/body

enlarged heart ( J:60351 )

• enlarged hearts, with all 4 chambers dilated

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy		DOID:12930	OMIM:PS115200	J:60351