Phenotypes associated with this allele

• Allele Symbol: Rbm20^em3Wguo
• Allele Name: endonuclease-mediated mutation 3, Wei Guo
• Allele ID: MGI:7266849
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rbm20^em3Wguo/Rbm20^em3Wguo	C57BL/6-Rbm20^em3Wguo	MGI:7275231
ht2	Rbm20^em3Wguo/Rbm20^+	C57BL/6-Rbm20^em3Wguo	MGI:7275232

Genotype
MGI:7275231

hm1

• 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

Genotype
MGI:7275232

ht2

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

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