Phenotypes Associated with This Genotype

Genotype
MGI:7408196

• Allelic Composition: Rbm24^tm1.1Xixu/Rbm24^tm1.1Xixu; Tg(Myh6-cre)1Xya/0
• Genetic Background: involves: C57BL/6NTac

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

mortality/aging

premature death ( J:302917 )

• mice start to die at P11 and all die before 2 months of age

postnatal lethality, incomplete penetrance ( J:302917 )

• earliest time of death is at P11

growth/size/body

weight loss ( J:302917 )

• mice exhibit weight loss and smaller body size with increasing age

respiratory system

respiratory distress ( J:302917 )

• mice exhibit shortness of breath with increasing age

cardiovascular system

dilated heart ventricle ( J:302917 )

• mice show increased dilation of the ventricle chambers at P5

cardiac fibrosis ( J:302917 )

• mice show increased cardiac fibrosis at P5

dilated cardiomyopathy ( J:302917 )

• mice exhibit dilated cardiomyopathy by P23

decreased cardiac muscle contractility ( J:302917 )

• mice show a decrease in left ventricular systolic function, showing a decrease in fractional shortening and ejection fraction, at P23

abnormal heart echocardiography feature ( J:302917 )

• echocardiography at P23 shows enlarged left ventricular chamber size, wall thinning, decreased interventricular septal thickness at end systole and decreased left ventricular posterior wall thickness at end systole, and an increase in left ventricular internal diameter during both systole and diastole

congestive heart failure ( J:302917 )

• mice develop heart failure

• congestion in the left ventricle and left atrium of hearts is seen after death

behavior/neurological

hypoactivity ( J:302917 )

• mice exhibit decreased spontaneous activity preceding death

muscle

dilated cardiomyopathy ( J:302917 )

• mice exhibit dilated cardiomyopathy by P23

decreased cardiac muscle contractility ( J:302917 )

• mice show a decrease in left ventricular systolic function, showing a decrease in fractional shortening and ejection fraction, at P23

abnormal sarcomere morphology ( J:302917 )

• sarcomere structure of heart shows minor defects at P5 but major alterations in myocardial structure at P23, including less, substantially short and dramatic disarrayed sarcomeres, irregular and wavy Z-disc and M-band

abnormal M line morphology ( J:302917 )

• the M-band is irregular and wavy in myocardium at P23

abnormal Z line morphology ( J:302917 )

• irregular and wavy Z-disc and distribution of Z-disc is affected in myocardium at P23

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy		DOID:12930	OMIM:PS115200	J:302917