Phenotypes Associated with This Genotype

Genotype
MGI:3653876

• Allelic Composition: Ryr2^tm1Sgp/Ryr2⁺
• Genetic Background: involves: 129/Sv * C57BL/6

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

cardiovascular system

cardiovascular system phenotype ( J:109683 )

N • do not exhibit any macroscopic alteration of the heart and vessels, no fibrous-fatty infiltration, or right ventricular cardiomyopathy under normal basal conditions

ventricular tachycardia ( J:109683 )

• develop bidirectional and polymorphic ventricular tachycardia upon stress testing and on administration of caffeine and of adrenergic agonists

• 5 of 14 heterozygotes undergoing stress testing followed by epinephrine administration develop repetitive ventricular arrhythmias (sustained (VTsus) and non-sustained (VTns) ventricular tachycardia)

irregular heartbeat ( J:109683 )

• 4 of 8 (50%) heterozygotes undergoing epinephrine and caffeine treatment develop sustained arrhythmias and 5 of 5 heterozygotes pretreated with propranolol, an antiadrenergic compound, develop ventricular arrhythmias

ventricular fibrillation ( J:109683 )

• develop ventricular fibrillation on administration of caffeine and of adrenergic agonists

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
catecholaminergic polymorphic ventricular tachycardia 1		DOID:0060675	OMIM:604772	J:109683