Phenotypes Associated with This Genotype

Genotype
MGI:6193917

• Allelic Composition: Tg(Myh6-Prkaca)2Eno/0
• Genetic Background: Not Specified

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

mortality/aging

premature death ( J:263774 )

• mice display higher mortality, with no mice surviving past 20 weeks

cardiovascular system

increased myocardial fiber size ( J:263774 )

• cardiomyocytes are enlarged and cardiomyocyte nuclei are enlarged

enlarged heart ( J:263774 )

• mice develop enlarged hearts

• however, hearts are normal at 4-8 weeks of age

cardiac hypertrophy ( J:263774 )

• cardiomyocytes are enlarged and expression of hypertrophic marker genes are elevated

thick ventricular wall ( J:263774 )

• ventricular walls are only moderately thicker at 10 weeks of age

cardiac fibrosis ( J:263774 )

• dilated hearts show mild fibrosis

dilated cardiomyopathy ( J:263774 )

• mice develop dilated cardiomyopathy

decreased cardiac muscle contractility ( J:263774 )

• fractional shortening is reduced, indicating contractile dysfunction

abnormal heart echocardiography feature ( J:263774 )

• echocardiography at 8 weeks of age indicates increased systolic dimensions and a tendency towards increased diastolic diameters of the left-ventricular chamber

decreased heart rate ( J:263774 )

atrial fibrillation ( J:263774 )

• ECG-analysis indicates atrial fibrillation in 5 of 8 mice

ventricular premature beat ( J:263774 )

• mice frequently exhibit premature ventricular beats

sinoatrial block ( J:263774 )

• in a severe case, spontaneous pauses in contraction lasting longer than 5 seconds are seen, most likely due to sinoatrial block

congestive heart failure ( J:263774 )

• mice exhibit symptoms indicative of congestive heart failure

homeostasis/metabolism

abnormal atrial thrombosis ( J:263774 )

• atria frequently contain organized thrombi

anasarca ( J:263774 )

• severe anasarca in severe cases

muscle

increased myocardial fiber size ( J:263774 )

• cardiomyocytes are enlarged and cardiomyocyte nuclei are enlarged

dilated cardiomyopathy ( J:263774 )

• mice develop dilated cardiomyopathy

decreased cardiac muscle contractility ( J:263774 )

• fractional shortening is reduced, indicating contractile dysfunction

growth/size/body

enlarged heart ( J:263774 )

• mice develop enlarged hearts

• however, hearts are normal at 4-8 weeks of age

cardiac hypertrophy ( J:263774 )

• cardiomyocytes are enlarged and expression of hypertrophic marker genes are elevated

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy		DOID:12930	OMIM:PS115200	J:263774