Phenotypes Associated with This Genotype

Genotype
MGI:3800634

• Allelic Composition: Tg(CAMalpha1b)7Wjk/?
• Genetic Background: Not Specified

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

growth/size/body

increased heart weight ( J:82721 )

• the heart to body weight ratio is increased by 20% compared to non-transgenic controls

cardiac hypertrophy ( J:134704 )

• approximate 2.5-fold increase in heart weight, suggesting eccentric cardiac hypertrophy in the late stages of cardiomyopathy

heart right ventricle hypertrophy ( J:82721 )

• myocytes located in the right ventricle have a 62% higher cross-section than found in non-transgenic controls

mortality/aging

premature death ( J:134704 )

• average age of death is 8.6 +/- 0.7 months

• males survive longer than females, dying on average at 12.4 months compared to 7 months for females

cardiovascular system

cardiovascular system phenotype ( J:82721 )

N • systolic and diastolic blood pressure is normal in these mice

abnormal myocardium layer morphology ( J:82721 )

• heart muscle contains elevated levels of diacylglycerol resulting from enhanced signaling by the alpha 1 adrenergic receptor through the Gq-phospholipase C-protein kinase C signaling pathway

myocardial fiber disarray ( J:134704 )

• left ventricular walls exhibit myofibrillar disarray

abnormal heart ventricle shape ( J:134704 )

• distortion of both ventricles

increased heart weight ( J:82721 )

• the heart to body weight ratio is increased by 20% compared to non-transgenic controls

cardiac hypertrophy ( J:134704 )

• approximate 2.5-fold increase in heart weight, suggesting eccentric cardiac hypertrophy in the late stages of cardiomyopathy

heart right ventricle hypertrophy ( J:82721 )

• myocytes located in the right ventricle have a 62% higher cross-section than found in non-transgenic controls

increased heart left ventricle size ( J:134704 )

• left ventricular end-systolic area and left ventricular end-diastolic area are higher at 6 and 9 months of age but not at 3 months, indicating progressive left ventricle enlargement with age

dilated heart ( J:134704 )

• all 4 cardiac chambers are enlarged

• however, posterior and septum wall thickness are largely unchanged

dilated cardiomyopathy ( J:134704 )

• mice exhibit late-onset dilated cardiomyopathy

decreased heart left ventricle muscle contractility ( J:134704 )

• fractional area change is decreased between 3 and 9 months of age by about 20%, indicating loss in left ventricular systolic function

abnormal heart echocardiography feature ( J:134704 )

• left ventricular end-systolic area and left ventricular end-diastolic area are higher at 6 and 9 months of age but not at 3 months, indicating progressive left ventricle enlargement with age

• left ventricular end-systolic area is increased over 80% from 3 to 9 months of age

• fractional area change is decreased between 3 and 9 months of age by about 20%

congestive heart failure ( J:134704 )

• mice present with signs of heart failure, including fatigue and dyspnea, followed by generalized edema and death

homeostasis/metabolism

abnormal atrial thrombosis ( J:134704 )

• frequent presence of right atrial thrombus

generalized edema ( J:134704 )

• seen before mice die

muscle

abnormal myocardium layer morphology ( J:82721 )

• heart muscle contains elevated levels of diacylglycerol resulting from enhanced signaling by the alpha 1 adrenergic receptor through the Gq-phospholipase C-protein kinase C signaling pathway

myocardial fiber disarray ( J:134704 )

• left ventricular walls exhibit myofibrillar disarray

heart right ventricle hypertrophy ( J:82721 )

• myocytes located in the right ventricle have a 62% higher cross-section than found in non-transgenic controls

dilated cardiomyopathy ( J:134704 )

• mice exhibit late-onset dilated cardiomyopathy

decreased heart left ventricle muscle contractility ( J:134704 )

• fractional area change is decreased between 3 and 9 months of age by about 20%, indicating loss in left ventricular systolic function

respiratory system

respiratory distress ( J:134704 )

• seen before mice die

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy		DOID:12930	OMIM:PS115200	J:134704