Phenotypes Associated with This Genotype

Genotype
MGI:5660497

• Allelic Composition: Tg(Myh6-Jup*)1Ajm/0
• Genetic Background: involves: FVB/N

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

mortality/aging

premature death ( J:192719 )

• about 10%, 20%, and 60% of mice die at 6, 12, and 24 weeks of age, respectively

cardiovascular system

abnormal heart morphology ( J:192719 )

• increase in number of adipocytes in the heart, with predominant distribution in the epicardium and patchy distribution in the myocardium

abnormal heart weight ( J:192719 )

• the ventricular/body weight ratio is increased

enlarged heart ( J:192719 )

cardiac interstitial fibrosis ( J:192719 )

• interstitial fibrosis is increased about 2-fold

decreased heart left ventricle muscle contractility ( J:192719 )

• left ventricular fractional shortening is decreased

abnormal heart echocardiography feature ( J:192719 )

• left ventricular end diastolic diameter, end systolic diameter, left ventricular mass are increased

ventricular tachycardia ( J:192719 )

• electrocardiograms show evidence of supraventricular tachycardia in some mice

irregular heartbeat ( J:192719 )

• electrocardiograms show evidence of ventricular arrhythmias

atrioventricular block ( J:192719 )

• electrocardiograms show evidence of third-degree atrioventricular block and atrioventricular dissociation in some mice

adipose tissue

abnormal fat cell morphology ( J:192719 )

• increase in number of adipocytes in the heart, with predominant distribution in the epicardium and patchy adipocyte distribution in the myocardium

abnormal fat cell differentiation ( J:192719 )

• cardiac progenitor cells isolated from mutants exhibit enhanced adipogenesis

cellular

abnormal fat cell differentiation ( J:192719 )

• cardiac progenitor cells isolated from mutants exhibit enhanced adipogenesis

cardiac interstitial fibrosis ( J:192719 )

• interstitial fibrosis is increased about 2-fold

muscle

decreased heart left ventricle muscle contractility ( J:192719 )

• left ventricular fractional shortening is decreased

growth/size/body

enlarged heart ( J:192719 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
arrhythmogenic right ventricular dysplasia 12		DOID:0110083	OMIM:611528	J:192719