Phenotypes Associated with This Genotype

Genotype
MGI:7275232

• Allelic Composition: Rbm20^em3Wguo/Rbm20⁺
• Genetic Background: C57BL/6-Rbm20^em3Wguo

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

cardiovascular system

abnormal heart morphology ( J:324088 )

• hearts are flabby and flimsy and the heart does not maintain a sphere-like shape

thin myocardium ( J:324088 )

• hearts exhibit thin myocardial walls

dilated heart left ventricle ( J:324088 )

• pressure-volume loop shows a decreased percent ejection fraction and increased end-systolic volume and end-diastolic volume, indicating dilated left ventricular chamber

dilated cardiomyopathy ( J:324088 )

• hearts exhibit a dilated cardiomyopathy-like phenotype presenting as enlarged left ventricular chamber and thinner ventricular wall in 2-month-old mice that is less severe than in homozygotes

• however, no cardiac fibrosis is seen

abnormal diastolic filling velocity ( J:324088 )

♀ • the mitral E/A ratio (the ratio of blood velocity through the mitral valve in early diastole to blood velocity in late diastole caused by atrial contraction) is increased in females, but not males

decreased heart left ventricle muscle contractility ( J:324088 )

• survivors under unconscious conditions show decreased left ventricular ejection fraction and fractional shortening

abnormal heartbeat ( J:324088 )

• mice develop abnormal heart rhythm with irregular PR and RR intervals

abnormal heart electrocardiography waveform feature ( J:324088 )

• electrocardiogram of survivors under unconscious conditions and conscious echo show lower left ventricular ejection fraction, larger left ventricular end diastolic diameter and systolic diameter, and decreased fractional shortening and relative left ventricle wall thickness

abnormal PR interval ( J:324088 )

• irregular PR interval

abnormal RR interval ( J:324088 )

• irregular RR interval

abnormal myocardial fiber physiology ( J:324088 )

• the slope of end diastolic stress sarcomere length relation and end systolic stress-sarcomere length relation are reduced and the maximal rate of stress rise during isometric contraction is reduced, however the maximal rate of stress decline is not different, indicating reduced cardiomyocyte diastolic stiffness

• the shortening amplitude of cardiomyocytes is larger and the time to peak shortening is prolonged while the time from peak to 50% is unaltered, indicating impaired cardiomyocyte contractility

muscle

thin myocardium ( J:324088 )

• hearts exhibit thin myocardial walls

dilated cardiomyopathy ( J:324088 )

• hearts exhibit a dilated cardiomyopathy-like phenotype presenting as enlarged left ventricular chamber and thinner ventricular wall in 2-month-old mice that is less severe than in homozygotes

• however, no cardiac fibrosis is seen

decreased heart left ventricle muscle contractility ( J:324088 )

• survivors under unconscious conditions show decreased left ventricular ejection fraction and fractional shortening

abnormal sarcomere morphology ( J:324088 )

• baseline sarcomere length of cardiomyocytes is shorter

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy 1DD		DOID:0110447	OMIM:613172	J:324088