Phenotypes Associated with This Genotype

Genotype
MGI:5883140

• Allelic Composition: Tg(Myh6-Pln*R9C)#Ces/0
• Genetic Background: involves: FVB/N

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

mortality/aging

premature death ( J:82353 )

• mice die on average at 20.9 weeks of age, with survival ranging between 12 and 35 weeks

cardiovascular system

increased myocardial fiber size ( J:82353 )

• myocyte enlargement without disarray

increased heart left atrium size ( J:82353 )

• prominent left atria

enlarged heart ( J:82353 )

dilated heart ventricle ( J:82353 )

• biventricular cardiac dilation begins at 4 months of age

dilated heart left ventricle ( J:82353 )

• massive left ventricular dilation

pericardial effusion ( J:82353 )

cardiac interstitial fibrosis ( J:82353 )

• extensive interstitial fibrosis

dilated cardiomyopathy ( J:82353 )

• dilated cardiomyopathy rapidly progresses

decreased heart left ventricle muscle contractility ( J:82353 )

• mice develop diminished left ventricle contractility as heart chamber size increases

abnormal myocardial fiber physiology ( J:82353 )

• the decay in calcium transients is prolonged in myocytes

• myocyte relaxation is delayed

• however, SR calcium-release velocities, time to 90% peak calcium signal and cell shortening velocities are similar to wild-type

• beta-adrenergic stimulation does not normalize the depressed calcium kinetics

congestive heart failure ( J:82353 )

• mice show symptoms of terminal heart failure including dyspnea, lethargy, and peripheral cyanosis

behavior/neurological

lethargy ( J:82353 )

• mice eventually show symptoms of terminal heart failure including lethargy

homeostasis/metabolism

pericardial effusion ( J:82353 )

cyanosis ( J:82353 )

• mice eventually show symptoms of terminal heart failure including terminal cyanosis

pleural effusion ( J:82353 )

liver/biliary system

enlarged liver ( J:82353 )

muscle

increased myocardial fiber size ( J:82353 )

• myocyte enlargement without disarray

dilated cardiomyopathy ( J:82353 )

• dilated cardiomyopathy rapidly progresses

decreased heart left ventricle muscle contractility ( J:82353 )

• mice develop diminished left ventricle contractility as heart chamber size increases

respiratory system

pleural effusion ( J:82353 )

respiratory distress ( J:82353 )

• mice eventually show symptoms of terminal heart failure including dyspnea

growth/size/body

enlarged heart ( J:82353 )

enlarged liver ( J:82353 )

cellular

cardiac interstitial fibrosis ( J:82353 )

• extensive interstitial fibrosis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy 1P		DOID:0110439	OMIM:609909	J:82353