Phenotypes Associated with This Genotype

Genotype
MGI:5910329

• Allelic Composition: Mypn^tm1.1Epu/Mypn⁺
• Genetic Background: either: (involves: 129S6/SvEv) or (involves: 129S6/SvEv * C57BL/6NCrl)

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

cardiovascular system

abnormal myocardial fiber morphology ( J:243710 )

• t-tubules are enlarged and cell-cell junctions are widened with excess convolutions

• focal loss of myofibrils

abnormal intercalated disk morphology ( J:243710 )

• mild intercalated disc disruption

abnormal heart atrium morphology ( J:243710 )

• the left atrial cross-sectional area is increased

abnormal heart left ventricle morphology ( J:243710 )

• the sphericity index, the ratio of the short-to long-axis dimensions of the left ventricle, is lower

cardiac interstitial fibrosis ( J:243710 )

• diffuse interstitial and perivascular fibrosis in the ventricular myocardium

• however, cardiomyocyte hypertrophy is not seen

abnormal cardiac muscle relaxation ( J:243710 )

• mice exhibit diastolic dysfunction with preserved systolic function by 12 weeks of age

abnormal heart echocardiography feature ( J:243710 )

• mice exhibit increased early (E) and late (A) diastolic velocities (E/A) ratio at 6 and 12 weeks of age and signs of impaired diastolic filling of the left ventricle including decreased end-diastolic volume and internal dimensions

irregular heartbeat ( J:243710 )

• 27.6% of mice exhibit arrhythmias, including premature atrial contractions, premature ventricular contractions, and type II second-degree atrioventricular block

atrioventricular block ( J:243710 )

• 3.4% of mice exhibit type II second-degree atrioventricular block

abnormal T wave ( J:243710 )

• T-wave duration is decreased

• however, heart rate, pulse, pulse rate, and QRS durations are normal

muscle

abnormal myocardial fiber morphology ( J:243710 )

• t-tubules are enlarged and cell-cell junctions are widened with excess convolutions

• focal loss of myofibrils

abnormal intercalated disk morphology ( J:243710 )

• mild intercalated disc disruption

abnormal cardiac muscle relaxation ( J:243710 )

• mice exhibit diastolic dysfunction with preserved systolic function by 12 weeks of age

cellular

cardiac interstitial fibrosis ( J:243710 )

• diffuse interstitial and perivascular fibrosis in the ventricular myocardium

• however, cardiomyocyte hypertrophy is not seen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
restrictive cardiomyopathy		DOID:397	OMIM:115210 OMIM:PS115210	J:243710