Phenotypes Associated with This Genotype

Genotype
MGI:6501726

• Allelic Composition: Dsg2^{tm1d(EUCOMM)Wtsi}/Dsg2^{tm1d(EUCOMM)Wtsi}
• Genetic Background: involves: C57BL/6J * C57BL/6N

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

cardiovascular system

cardiac fibrosis ( J:235770 )

• extensive biventricular epicardial and endocardial fibrosis

• exercised mice show extensive biventricular fibrosis

• mice treated daily with the GSK3B inhibitor SB216763 at 3 weeks of age do not exhibit biventricular epicardial and endocardial fibrosis

decreased cardiac muscle contractility ( J:235770 )

• mice show reduced ejection fraction and fractional shortening by 8 weeks of age

• exercised mice show reduced ejection fraction and fractional shortening compared to exercised wild-type mice

• SB216763 treatment improves cardiac function

abnormal heart echocardiography feature ( J:235770 )

• echocardiography shows reduced interventricular septal end-systolic volume, increased left ventricular internal diameter end-diastolic volume and end-systolic volume, decreased left ventricular posterior wall end systole, and reduced fractional shortening and ejection fraction

ventricular premature beat ( J:235770 )

• mice show increased ventricular ectopy

decreased P wave amplitude ( J:235770 )

increased Q wave amplitude ( J:235770 )

prolonged QRS complex duration ( J:235770 )

• prolongation of the average QRS duration

• exercised mice show longer mean QRS complex duration than exercised wild-type mice

• SB216763 treatment normalizes QRS duration

abnormal S wave ( J:235770 )

• mice show reduced S wave amplitude

• exercised mice show reduced S wave amplitude

increased cardiomyocyte apoptosis ( J:235770 )

• exercised mice show numerous TUNEL+ nuclei in the myocardium indicating increased apoptosis compared to exercised wild-type mice

cardiomyopathy ( J:235770 )

• mice develop cardiomyopathy by 8 weeks of age

heart inflammation ( J:235770 )

• biventricular and endocardial inflammation

• exercised mice show extensive biventricular fibrosis and inflammation

• mice treated daily with SB216763 at 3 weeks of age do not exhibit biventricular epicardial and endocardial fibrosis inflammation

mortality/aging

increased susceptibility to induced morbidity/mortality ( J:235770 )

• 55% of mice die while swimming, with mean time of exercise at death of 7.8 +/- 0.6 weeks

• SB216763 treatment improves survival of exercised mice

immune system

heart inflammation ( J:235770 )

• biventricular and endocardial inflammation

• exercised mice show extensive biventricular fibrosis and inflammation

• mice treated daily with SB216763 at 3 weeks of age do not exhibit biventricular epicardial and endocardial fibrosis inflammation

muscle

decreased cardiac muscle contractility ( J:235770 )

• mice show reduced ejection fraction and fractional shortening by 8 weeks of age

• exercised mice show reduced ejection fraction and fractional shortening compared to exercised wild-type mice

• SB216763 treatment improves cardiac function

increased cardiomyocyte apoptosis ( J:235770 )

• exercised mice show numerous TUNEL+ nuclei in the myocardium indicating increased apoptosis compared to exercised wild-type mice

cardiomyopathy ( J:235770 )

• mice develop cardiomyopathy by 8 weeks of age

cellular

increased cardiomyocyte apoptosis ( J:235770 )

• exercised mice show numerous TUNEL+ nuclei in the myocardium indicating increased apoptosis compared to exercised wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
arrhythmogenic right ventricular dysplasia 10		DOID:0110081	OMIM:610193	J:235770