Phenotypes Associated with This Genotype

Genotype
MGI:4452351

• Allelic Composition: Tg(Myh6-STK4)28Jusa/0
• Genetic Background: involves: C57BL/6

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

mortality/aging

premature death ( J:139414 )

• some mice die of heart failure as early as P15

cardiovascular system

abnormal cardiovascular system morphology ( J:139414 )

liver vascular congestion ( J:139414 )

• at 1.5 months of age

pulmonary vascular congestion ( J:139414 )

• at 1.5 months of age

abnormal myocardial fiber morphology ( J:139414 )

• left ventricle myocardium myocyte density, length, and capacitance are reduced compared to in wild-type mice

• however, no compensatory myocyte hypertrophy is observed in the left ventricle

decreased myocardial fiber number ( J:139414 )

decreased myocardial fiber size ( J:139414 )

dilated heart left atrium ( J:139414 )

• at 3 months

dilated heart right atrium ( J:139414 )

• at 3 months

abnormal heart left ventricle morphology ( J:139414 )

• at P70 to P80, left ventricles exhibit increased end-diastolic dimension, increased end-systolic dimension, and decreased wall thickness compared with wild-type mice

• left ventricle myocardium myocyte density is reduced compared to in wild-type mice

• however, no compensatory myocyte hypertrophy is observed in the left ventricle

dilated heart left ventricle ( J:139414 )

• at 3 months

thin ventricular wall ( J:139414 )

• at P70 and P80

dilated heart right ventricle ( J:139414 )

• at 3 months

abnormal cardiovascular system physiology ( J:139414 )

dilated cardiomyopathy ( J:139414 )

• at 3 months

decreased heart left ventricle muscle contractility ( J:139414 )

• at P70 and P80, mice exhibit decreased left ventricle ejection fraction and fractional shortening compared with wild-type mice

congestive heart failure ( J:139414 )

respiratory system

pulmonary vascular congestion ( J:139414 )

• at 1.5 months of age

increased lung weight ( J:139414 )

• due to congestion at 1.5 months of age

respiratory distress ( J:139414 )

liver/biliary system

liver vascular congestion ( J:139414 )

• at 1.5 months of age

increased liver weight ( J:139414 )

• due to congestion at 1.5 months of age

homeostasis/metabolism

abnormal atrial thrombosis ( J:139414 )

• mural atrial thrombus at 3 months

edema ( J:139414 )

muscle

abnormal myocardial fiber morphology ( J:139414 )

• left ventricle myocardium myocyte density, length, and capacitance are reduced compared to in wild-type mice

• however, no compensatory myocyte hypertrophy is observed in the left ventricle

decreased myocardial fiber number ( J:139414 )

decreased myocardial fiber size ( J:139414 )

dilated cardiomyopathy ( J:139414 )

• at 3 months

decreased heart left ventricle muscle contractility ( J:139414 )

• at P70 and P80, mice exhibit decreased left ventricle ejection fraction and fractional shortening compared with wild-type mice

increased cardiomyocyte apoptosis ( J:139414 )

• at 2 months of age

cellular

increased cardiomyocyte apoptosis ( J:139414 )

• at 2 months of age

growth/size/body

increased lung weight ( J:139414 )

• due to congestion at 1.5 months of age

increased liver weight ( J:139414 )

• due to congestion at 1.5 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy		DOID:12930	OMIM:PS115200	J:139414