Phenotypes Associated with This Genotype

Genotype
MGI:7275231

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

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

mortality/aging

premature death ( J:324088 )

• mice exhibit about 52% mortality by 2 months of age; all mice at autopsy show enlarged atria

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

abnormal heart atrium morphology ( J:324088 )

• atria contain white and solid fat-like deposition at autopsy

increased heart atrium size ( J:324088 )

• all mice that die show enlarged atria at autopsy

• 23.1% of mice exhibit enlarged atria

increased heart weight ( J:324088 )

• heart to body weight is increased in 2-month-old mice

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 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 shows lower left ventricular ejection fraction, increased left ventricular end diastolic diameter and systolic diameter, decreased fractional shortening and relative left ventricle wall thickness

• tricuspid annular plane systolic excursion is decreased only in females

• however, no major differences in right ventricular parameters, except right ventricular internal diameter at systole in females

abnormal PR interval ( J:324088 )

• irregular PR interval

abnormal P wave ( J:324088 )

• P wave morphology suggests aberrant atrial conduction

abnormal RR interval ( J:324088 )

• irregular RR interval

growth/size/body

increased heart weight ( J:324088 )

• heart to body weight is increased in 2-month-old mice

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

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