Phenotypes Associated with This Genotype

Genotype
MGI:6276042

• Allelic Composition: Tg(Myh6-Camk2d_ic)MJhb/0
• Genetic Background: either: (involves: Black Swiss) or (involves: C57BL/6)

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

mortality/aging

premature death ( J:130644 )

• 50% of mice die prematurely, most by 16 weeks of age

cardiovascular system

pulmonary vascular congestion ( J:130644 )

• 12 week old mice show a 26% increase in lung/body weight ratio, indicating pulmonary congestion

increased myocardial fiber size ( J:130644 )

dilated heart atrium ( J:130644 )

enlarged heart ( J:130644 )

• mice show enlargement of hearts by 8-10 weeks of age

cardiac hypertrophy ( J:130644 )

• marker analysis indicates overexpression of genes associated with cardiac hypertrophy

dilated heart ventricle ( J:130644 )

cardiac fibrosis ( J:130644 )

• mild fibrosis

dilated cardiomyopathy ( J:130644 )

• mice exhibit ventricular dilation and cardiac dysfunction

decreased cardiac muscle contractility ( J:130644 )

• fractional shortening is decreased by 50-60% at 8 weeks of age

abnormal heart echocardiography feature ( J:130644 )

• M-mode echocardiography indicates a 50% increase in left ventricular mass to body weight ratio by 8 weeks of age

• left ventricular end diastolic diameter is increased by 35-45%, left ventricular posterior wall thickness is decreased by 26-29% and fractional shortening is decreased by 50-60% at 8 weeks of age

abnormal myocardial fiber physiology ( J:130644 )

• ventricular myocytes isolated from 12 week old mice and stimulated at 0.5 Hz show decreased contractile function, and slightly increased average half-relaxation time

congestive heart failure ( J:130644 )

• marker analysis indicates overexpression of genes associated with heart failure

homeostasis/metabolism

abnormal atrial thrombosis ( J:130644 )

• mice exhibit atrial thrombi

edema ( J:130644 )

• severe edema

pleural effusion ( J:130644 )

muscle

increased myocardial fiber size ( J:130644 )

dilated cardiomyopathy ( J:130644 )

• mice exhibit ventricular dilation and cardiac dysfunction

decreased cardiac muscle contractility ( J:130644 )

• fractional shortening is decreased by 50-60% at 8 weeks of age

respiratory system

pulmonary vascular congestion ( J:130644 )

• 12 week old mice show a 26% increase in lung/body weight ratio, indicating pulmonary congestion

pleural effusion ( J:130644 )

growth/size/body

enlarged heart ( J:130644 )

• mice show enlargement of hearts by 8-10 weeks of age

cardiac hypertrophy ( J:130644 )

• marker analysis indicates overexpression of genes associated with cardiac hypertrophy

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congestive heart failure		DOID:6000		J:130644
dilated cardiomyopathy		DOID:12930	OMIM:PS115200	J:130644