Phenotypes Associated with This Genotype

Genotype
MGI:6490510

• Allelic Composition: Ppp3r1^tm1.1Jhon/Ppp3r1^tm1.1Jhon
• Genetic Background: involves: C57BL/6 * C57BL/6NTac

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

mortality/aging

premature death ( J:298603 )

• mice begin to die at 17 months of age, with a survival rate of about 70% at this time

cardiovascular system

abnormal myocardial fiber morphology ( J:298603 )

• decrease in average cross-sectional area of left ventricle myocytes

• shorter maximum diameter of cardiomyocytes

increased heart left ventricle size ( J:298603 )

• the left ventricle chamber is large

increased heart right ventricle size ( J:298603 )

• the right ventricle chamber is large

thin ventricular wall ( J:298603 )

• the left ventricle and right ventricle free walls are thinner

cardiac interstitial fibrosis ( J:298603 )

• mice show an increase in fibrosis in hearts, with hearts showing higher levels of type I and type II collagens

dilated cardiomyopathy ( J:298603 )

• heart weight to body weight ratio is increased and heart mass is increased in 18-month, but not 12-month, old mice

decreased cardiac muscle contractility ( J:298603 )

• mice exhibit decreased fractional shortening and decreased left ventricle ejection fraction at 18 months of age

abnormal heart echocardiography feature ( J:298603 )

• left ventricular end-diastolic diameter is increased at 18, but not 12, months of age

increased cardiomyocyte apoptosis ( J:298603 )

• higher rates of apoptotic cardiomyocyte death

congestive heart failure ( J:298603 )

• mice exhibit an increase in expression of heart failure gene markers at 18 months of age

muscle

abnormal myocardial fiber morphology ( J:298603 )

• decrease in average cross-sectional area of left ventricle myocytes

• shorter maximum diameter of cardiomyocytes

dilated cardiomyopathy ( J:298603 )

• heart weight to body weight ratio is increased and heart mass is increased in 18-month, but not 12-month, old mice

decreased cardiac muscle contractility ( J:298603 )

• mice exhibit decreased fractional shortening and decreased left ventricle ejection fraction at 18 months of age

increased cardiomyocyte apoptosis ( J:298603 )

• higher rates of apoptotic cardiomyocyte death

cellular

cardiac interstitial fibrosis ( J:298603 )

• mice show an increase in fibrosis in hearts, with hearts showing higher levels of type I and type II collagens

increased cardiomyocyte apoptosis ( J:298603 )

• higher rates of apoptotic cardiomyocyte death

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy		DOID:12930	OMIM:PS115200	J:298603