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Phenotypes Associated with This Genotype
Genotype
MGI:6104247
Allelic
Composition
Ryr2tm3.1Hhv/Ryr2+
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ryr2tm3.1Hhv mutation (0 available); any Ryr2 mutation (39 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• bradycardia at baseline
• however, mice exhibit normal fractional shortening and ejection fraction and show no gross structural alterations of the heart
• increasing the extracellular calcium concentration from 1.8 to 3.6 mM during adrenergic stress induces spontaneous long-lasting ventricular fibrillation
• however, hearts stimulated with isoproterenol do not show spontaneous arrhythmias under basal conditions and hearts stimulated with isoproterenol and administered caffeine fail to induce arrhythmias
• the maximum rise rate and amplitude of the evoked intracellular calcium transient are depressed in ventricular myocytes, resulting in a lower e-c coupling gain
• ventricular myocytes show random occurrence of early afterdepolarizations which appear as depolarized potentials and distort the action potential waveform
• intracellular calcium transients are altered, showing random occurrence of a sustained, low-amplitude phase of calcium release
• high variability in intracellular calcium transient decay in ventricular myocytes
• in isoproterenol-stimulated ventricular myocytes, peak of calcium release during systole is decreased, gradually overloading the sarcoplasmic reticulum with calcium

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
catecholaminergic polymorphic ventricular tachycardia 1 DOID:0060675 OMIM:604772
J:220671


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