Phenotypes associated with this allele

• Allele Symbol: Rbm20⁺
• Allele Name: wild type
• Allele ID: MGI:3689014
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Rbm20^em2Wguo/Rbm20^+	C57BL/6J-Rbm20^em2Wguo	MGI:7276177
ht2	Rbm20^em3Wguo/Rbm20^+	C57BL/6-Rbm20^em3Wguo	MGI:7275232
ht3	Rbm20^tm1Hgra/Rbm20^+	involves: C57BL/6	MGI:5566533
ht4	Rbm20^em1Hide/Rbm20^+	involves: C57BL/6J	MGI:6477030
cn5	Rbm20^tm2.1Hgra/Rbm20^+ Tg(Myh6-cre)2182Mds/0	involves: C57BL/6 * FVB/N	MGI:5566535

Genotype
MGI:7276177

ht1

• Allelic Composition: Rbm20^em2Wguo/Rbm20⁺
• Genetic Background: C57BL/6J-Rbm20^em2Wguo

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

cardiovascular system

abnormal heart morphology ( J:324125 )

• isolated hearts are flabby, flimsy and flatten under their own weight

decreased heart left ventricle wall thickness ( J:324125 )

♂ • left ventricular walls are thinner in males, but not females

abnormal heart echocardiography feature ( J:324125 )

• echocardiography shows reduced ejection fraction and an enlarged left ventricle chamber in both diastole and systole

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

Genotype
MGI:5566533

ht3

• Allelic Composition: Rbm20^tm1Hgra/Rbm20⁺
• Genetic Background: involves: C57BL/6

cardiovascular system

abnormal myocardial fiber morphology ( J:208676 )

• reduced stiffness

abnormal heart left ventricle morphology ( J:208676 )

• prolonged deceleration time of the E wave suggests a reduced diastolic left ventricular chamber stiffness

muscle

abnormal myocardial fiber morphology ( J:208676 )

• reduced stiffness

Genotype
MGI:6477030

ht4

• Allelic Composition: Rbm20^em1Hide/Rbm20⁺
• Genetic Background: involves: C57BL/6J

cardiovascular system

decreased cardiac muscle contractility ( J:297234 )

♂ • slight but significantly lower fractional shortening at 12-16 weeks of age

abnormal heart echocardiography feature ( J:297234 )

♂ • slight but significantly lower fractional shortening at 12-16 weeks of age

atrial fibrillation ( J:297234 )

♂ • 1 of 6 mice shows spontaneous atrial fibrillation

muscle

decreased cardiac muscle contractility ( J:297234 )

♂ • slight but significantly lower fractional shortening at 12-16 weeks of age

Genotype
MGI:5566535

cn5

• Allelic Composition: Rbm20^tm2.1Hgra/Rbm20⁺; Tg(Myh6-cre)2182Mds/0
• Genetic Background: involves: C57BL/6 * FVB/N

cardiovascular system

abnormal myocardial fiber morphology ( J:208676 )

• reduced stiffness under passive stress

abnormal heart left ventricle morphology ( J:208676 )

• prolonged deceleration time of the E wave suggests a reduced diastolic left ventricular chamber stiffness

homeostasis/metabolism

abnormal exercise endurance ( J:208676 )

• increased maximal running speed on a free-running wheel

• however, mean running distance is normal

muscle

abnormal myocardial fiber morphology ( J:208676 )

• reduced stiffness under passive stress