Phenotypes Associated with This Genotype

Genotype
MGI:5432115

• Allelic Composition: Ryr2^tm1.1Clhh/Ryr2^tm1.1Clhh
• Genetic Background: 129S/SvEv-Ryr2^tm1.1Clhh

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

cardiovascular system

ventricular tachycardia ( J:186379 )

• with programmed electrical stimulation

• tendency towards non-sustained ventricular tachycardia compared and sustained ventricular tachycardia

• during intrinsic activity, mice exhibit arrhythmic behavior compared with wild-type mice

irregular heartbeat ( J:186379 )

• during regular pacing and programmed electrical stimulation at varying frequencies in the absence or presence of isoproterenol

abnormal myocardial fiber physiology ( J:186379 )

• cardiac myocytes exhibit increased mean peak calcium transients and evoked responses with subsidiary events compared with wild-type cells

• before and after isoproterenol, cardiac myocytes exhibit increased numbers of ectopic calcium transient peaks

• isoproterenol treated cardiac myocytes fail to exhibit evoked responses with subsidiary calcium transient events unlike wild-type cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
catecholaminergic polymorphic ventricular tachycardia 1		DOID:0060675	OMIM:604772	J:186379