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Phenotypes Associated with This Genotype
Genotype
MGI:6501726
Allelic
Composition
Dsg2tm1d(EUCOMM)Wtsi/Dsg2tm1d(EUCOMM)Wtsi
Genetic
Background
involves: C57BL/6J * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dsg2tm1d(EUCOMM)Wtsi mutation (0 available); any Dsg2 mutation (80 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• 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
• 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
• 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
• mice show increased ventricular ectopy
• prolongation of the average QRS duration
• exercised mice show longer mean QRS complex duration than exercised wild-type mice
• SB216763 treatment normalizes QRS duration
• mice show reduced S wave amplitude
• exercised mice show reduced S wave amplitude
• mice develop cardiomyopathy by 8 weeks of age
• 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
• 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
• mice treated daily with SB216763 at 3 weeks of age do not exhibit biventricular epicardial and endocardial fibrosis inflammation
• biventricular and endocardial inflammation
• exercised mice show extensive biventricular fibrosis and inflammation

muscle
• 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
• mice develop cardiomyopathy by 8 weeks of age
• exercised mice show numerous TUNEL+ nuclei in the myocardium indicating increased apoptosis compared to exercised wild-type mice

cellular
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory