Phenotypes Associated with This Genotype

Genotype
MGI:3689179

• Allelic Composition: Ryr2^tm1Slh/Ryr2⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

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

Ryr2^tm1Slh/Ryr⁺ MRI heart images

cardiovascular system

decreased cardiac muscle contractility ( J:111780 )

• systolic function is modestly reduced as demonstrated by decreased peak of aortic velocity

decreased heart right ventricle muscle contractility ( J:111780 )

• exhibit a lowered right ventricular end-diastolic volume and higher right ventricular end-diastolic pressure, indicating restrictive ventricular filling, however show no evidence of fibrofatty infiltration or arrhythmogenic right ventricular dysplasia

ventricular tachycardia ( J:111780 )

• develop ventricular tachycardia after caffeine and epinephrine injection or with programmed ventricular stimulation

ventricular premature beat ( J:111780 )

• multiple premature ventricular beats are seen after isoproterenol treatment (a beta-adrenergic receptor agonist), however no sustained ventricular arrhythmias are seen

abnormal myocardial fiber physiology ( J:111780 )

• isolated cardiomyocytes exhibit a higher incidence of spontaneous calcium oscillations in the absence and presence of isoproterenol

cardiomyopathy ( J:111780 )

muscle

decreased cardiac muscle contractility ( J:111780 )

• systolic function is modestly reduced as demonstrated by decreased peak of aortic velocity

decreased heart right ventricle muscle contractility ( J:111780 )

• exhibit a lowered right ventricular end-diastolic volume and higher right ventricular end-diastolic pressure, indicating restrictive ventricular filling, however show no evidence of fibrofatty infiltration or arrhythmogenic right ventricular dysplasia

cardiomyopathy ( J:111780 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
catecholaminergic polymorphic ventricular tachycardia 1		DOID:0060675	OMIM:604772	J:111780