Phenotypes Associated with This Genotype

Genotype
MGI:5906061

• Allelic Composition: Tg(Myh7-Phc1)#Yota/0
• Genetic Background: involves: C57BL/6

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

mortality/aging

premature death ( J:75968 )

• 100% lethality within 8 months of age

cardiovascular system

abnormal myocardial fiber morphology ( J:75968 )

• ventricles are occupied by abnormal cardiomyocytes at 3 and 6 months of age

• in the most severe regions, H lines are not visible

thin myocardium ( J:75968 )

• thinning of the myocardium associated with cardiac failure

enlarged heart ( J:75968 )

• hearts are enlarged with severe reduction of the ventricular wall thickness at autopsy

• however, hypertrophy of the heart is not seen at any stage

dilated cardiomyopathy ( J:75968 )

decreased heart left ventricle muscle contractility ( J:75968 )

• left ventricular dimension is increased and left ventricular ejection fraction is decreased in 5-6 month old mice

• however, no reduction in left ventricular posterior wall thickness or interventricular septal thickness is seen at 5-6 months of age

congestive heart failure ( J:75968 )

• mice show characteristics of heart failure such as general weakness, lack of food and water intake, labored breathing, generalized edema with gain of body weight

cellular

abnormal mitochondrial crista morphology ( J:75968 )

• the number of the stacks of the mitochondrial cristae is reduced in cardiomyocytes

abnormal mitochondrial shape ( J:75968 )

• very elongated mitochondria are sometimes seen in cardiomyocytes

increased cardiomyocyte apoptosis ( J:75968 )

• increase in cardiomyocyte apoptosis at 3 and 6 months of age

homeostasis/metabolism

abnormal atrial thrombosis ( J:75968 )

• intracavitary thrombi are frequently seen in the left atrium at autopsy

edema ( J:75968 )

• death is preceded for several days by generalized edema

ascites ( J:75968 )

pleural effusion ( J:75968 )

muscle

abnormal myocardial fiber morphology ( J:75968 )

• ventricles are occupied by abnormal cardiomyocytes at 3 and 6 months of age

• in the most severe regions, H lines are not visible

thin myocardium ( J:75968 )

• thinning of the myocardium associated with cardiac failure

dilated cardiomyopathy ( J:75968 )

decreased heart left ventricle muscle contractility ( J:75968 )

• left ventricular dimension is increased and left ventricular ejection fraction is decreased in 5-6 month old mice

• however, no reduction in left ventricular posterior wall thickness or interventricular septal thickness is seen at 5-6 months of age

increased cardiomyocyte apoptosis ( J:75968 )

• increase in cardiomyocyte apoptosis at 3 and 6 months of age

abnormal sarcomere morphology ( J:75968 )

• cardiomyocyte sarcomeres show abnormal arrangements with irregular and loose myofilaments

abnormal M line morphology ( J:75968 )

• in the most severe regions, M lines are not visible in cardiomyocytes

abnormal Z line morphology ( J:75968 )

• Z-lines are vague and enlarged in cardiomyocytes

respiratory system

pleural effusion ( J:75968 )

respiratory distress ( J:75968 )

• death is preceded for several days by dyspnea

growth/size/body

enlarged heart ( J:75968 )

• hearts are enlarged with severe reduction of the ventricular wall thickness at autopsy

• however, hypertrophy of the heart is not seen at any stage

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy		DOID:12930	OMIM:PS115200	J:75968