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Phenotypes Associated with This Genotype
Genotype
MGI:5583981
Allelic
Composition
Ryr2tm2Hhv/Ryr2+
Genetic
Background
involves: 129 * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ryr2tm2Hhv mutation (0 available); any Ryr2 mutation (39 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• the mutant type 2 ryanodine receptor channels show an increase in and widely variable open probability response to luminal calcium compared to wild-type channels which show a moderate response
• however, mice show normal cardiac morphology and functional echocardiogram at rest
• hearts under beta-adrenergic stimulation produce more frequent arrhythmic episodes characterized by premature ventricular complexes and ventricular bigeminy
• mice intraperitoneally injected with epinephrine and caffeine show highly arrhythmic behavior, mostly premature ventricular complexes, bigeminy, or ventricular tachyarrhythmias
• optical mapping of the anterior ventricular epicardium following isoproterenol plus caffeine application, indicates multiple ventricular foci of arrhythmia
• hearts under beta-adrenergic stimulation produce arrhythmic episodes characterized by premature ventricular complexes
• ventricular myocytes subjected to a stress test (isoproterenol-stimulation) exhibit more frequent spontaneous calcium release events and have shorter latency, either partial or fully propagated, than wild-type myocytes

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
catecholaminergic polymorphic ventricular tachycardia 1 DOID:0060675 OMIM:604772
J:212870


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
08/13/2019
MGI 6.14
The Jackson Laboratory