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Phenotypes Associated with This Genotype
Genotype
MGI:3653876
Allelic
Composition
Ryr2tm1Sgp/Ryr2+
Genetic
Background
involves: 129/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ryr2tm1Sgp mutation (0 available); any Ryr2 mutation (39 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
N
• do not exhibit any macroscopic alteration of the heart and vessels, no fibrous-fatty infiltration, or right ventricular cardiomyopathy under normal basal conditions
• 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)
• 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
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
07/16/2019
MGI 6.14
The Jackson Laboratory