Phenotypes Associated with This Genotype

Genotype
MGI:5907041

• Allelic Composition: Myocd^tm1Msp/Myocd^tm1Msp; Tg(Myh6-cre)2182Mds/0
• Genetic Background: involves: 129/Sv * FVB/N

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

mortality/aging

premature death ( J:154666 )

• 90% of mice die by 10 months of age and no mice survive beyond 1 year of age

postnatal lethality, incomplete penetrance ( J:154666 )

• about 20% of mice die before 3 weeks of age

cardiovascular system

abnormal myocardial fiber morphology ( J:154666 )

• extensive loss of myofibrillar striations

abnormal intercalated disk morphology ( J:154666 )

• intercalated discs of hearts appear abnormal

• serpiginous intercalated discs with indistinct desmosomes and adherens junctions

myocardial fiber degeneration ( J:154666 )

• hearts show extensive loss of cardiomyocytes

increased heart atrium size ( J:154666 )

• both the left and right atrium are enlarged in 10 month old mice

enlarged heart ( J:154666 )

• four-chamber enlargement in 10 month old mice

increased heart ventricle size ( J:154666 )

• both the left and right ventricles are enlarged in 10 month old mice

pericardial effusion ( J:154666 )

cardiac fibrosis ( J:154666 )

• 11.2% of the left ventricle myocardium shows fibrosis compared to 0.46% in controls

dilated cardiomyopathy ( J:154666 )

• mice develop lethal dilated cardiomyopathy

decreased cardiac muscle contractility ( J:154666 )

• systolic function is depressed

• mean ejection fraction is reduced (24.5% vs 57.8% in controls)

abnormal heart echocardiography feature ( J:154666 )

• echocardiography shows enlargement of the left atrium, left ventricle, right atrium, and right ventricle in 10 month old hearts

homeostasis/metabolism

pericardial effusion ( J:154666 )

abnormal cardiac thrombosis ( J:154666 )

• atrial and ventricular thromboses are seen in 10 month old hearts

abnormal atrial thrombosis ( J:154666 )

• atrial thromboses are seen in 10 month old hearts

muscle

abnormal myocardial fiber morphology ( J:154666 )

• extensive loss of myofibrillar striations

abnormal intercalated disk morphology ( J:154666 )

• intercalated discs of hearts appear abnormal

• serpiginous intercalated discs with indistinct desmosomes and adherens junctions

myocardial fiber degeneration ( J:154666 )

• hearts show extensive loss of cardiomyocytes

dilated cardiomyopathy ( J:154666 )

• mice develop lethal dilated cardiomyopathy

decreased cardiac muscle contractility ( J:154666 )

• systolic function is depressed

• mean ejection fraction is reduced (24.5% vs 57.8% in controls)

abnormal sarcomere morphology ( J:154666 )

• shortened, hypercontracted sarcomeres in hearts

growth/size/body

enlarged heart ( J:154666 )

• four-chamber enlargement in 10 month old mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy		DOID:12930	OMIM:PS115200	J:154666