Phenotypes Associated with This Genotype

Genotype
MGI:6275457

• Allelic Composition: Mrgprd^tm5Mjz/Mrgprd^tm5Mjz
• Genetic Background: B6.129S1-Mrgprd^tm5Mjz/Mmnc

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

cardiovascular system

abnormal myocardial fiber morphology ( J:269603 )

• cardiomyocytes are hypertrophic

abnormal mitral valve annulus morphology ( J:269603 )

• the mitral valve annulus shows an increase in area

increased heart left atrium size ( J:269603 )

• the left atrium shows an increase in area

thin interventricular septum ( J:269603 )

• hearts show poor systolic thickening of the interventricular septum

globular heart ( J:269603 )

• hearts are dilated/globoid in appearance

increased heart left ventricle size ( J:269603 )

• increase of the left ventricle chamber

decreased heart left ventricle wall thickness ( J:269603 )

• thinning of left ventricle walls

dilated heart ( J:269603 )

• hearts are dilated/globoid in appearance

dilated cardiomyopathy ( J:269603 )

• mice show thinning of left ventricle walls, increase of left ventricle chamber along with decreased ventricular wall dynamics indicating dilated cardiomyopathy

decreased cardiac output ( J:269603 )

• mild, but significant, decrease in cardiac output

• however, no difference in stroke volume

decreased cardiac muscle contractility ( J:269603 )

• mice exhibit decreased fractional shortening and ejection fraction

abnormal heart echocardiography feature ( J:269603 )

• echocardiography shows marked left ventricle remodeling and dysfunction, with 12 week old mice showing an increase in end-diastolic and end-systolic diameters, increase in end-diastolic and end-systolic volumes, low ejection fraction and fractional shortening

• hearts show poor systolic thickening of the interventricular septum and of the left ventricle posterior wall at systole indicating decreased systolic function

• speckle-tracking echocardiography shows an alteration in the longitudinal endocardial velocity and strain rate and a reduction of circumferential endocardial displacement

increased heart rate ( J:269603 )

• 2 week old mice show increased heart rate but heart rate is normal by 12 weeks of age

abnormal myocardial fiber physiology ( J:269603 )

• cardiomyocytes exhibit reduced fractional shortening and changes in peak shortening/lengthening velocities but normal time to half-relaxation

increased vasodilation ( J:269603 )

• isolated hearts exhibit reduced perfusion pressure, indicating an increase in coronary vasodilation

muscle

abnormal myocardial fiber morphology ( J:269603 )

• cardiomyocytes are hypertrophic

dilated cardiomyopathy ( J:269603 )

• mice show thinning of left ventricle walls, increase of left ventricle chamber along with decreased ventricular wall dynamics indicating dilated cardiomyopathy

decreased cardiac muscle contractility ( J:269603 )

• mice exhibit decreased fractional shortening and ejection fraction

increased vasodilation ( J:269603 )

• isolated hearts exhibit reduced perfusion pressure, indicating an increase in coronary vasodilation

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy		DOID:12930	OMIM:PS115200	J:269603