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Phenotypes Associated with This Genotype
Genotype
MGI:6682030
Allelic
Composition
Ryr2em1Swch/Ryr2+
Genetic
Background
involves: 129 * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ryr2em1Swch mutation (0 available); any Ryr2 mutation (325 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• echocardiography shows a slightly reduced heart rate of about 10% and moderately increased (about 20%) left ventricular wall thickness
• however, ejection fraction, fractional shortening, stroke volume and cardiac output are unchanged
• heart rate is reduced about 10%
• none of the common stimulation protocols (a burst pacing, a long pause, and a short-coupled premature ventricular complex) reliably induce ventricular arrhythmias in mutant mice
• however, a protocol consisting of a long-burst, long-pause, and short-coupled extra-stimulus (LBLPS) consistently triggers ventricular arrhythmias in mutants but not wild-type mice
• mice pretreated with quinidine sulfate reduces the duration and incidence of LBLPS-evoked polymorphic ventricular arrhythmias
• elevating extracellular calcium concentration to promote sarcoplasmic reticulum calcium overload, induces little or no calcium waves in hearts
• hearts show resilience to caffeine- and epinephrine-promoted spontaneous calcium waves
• at high stimulation frequencies, hearts are more prone to calcium alternans and exhibit prolonged calcium release refractoriness
• however, the amplitude, time to peak, and decay time of depolarization-induced calcium transients at low stimulation frequency in hearts or isolated cardiomyocytes are similar to wild-type mice
• ventricular myocytes show an electrophysiological remodeling of surface membrane currents
• the Na/Ca exchange current is substantially augmented in ventricular myocytes
• the transient outward potassium current density and voltage-dependent activation are enhanced in ventricular myocytes
• ventricular myocytes are highly susceptible to early afterdepolarizations
• L-type calcium channel current density in ventricular myocytes is enhanced
• the sodium current shows a leftward (hyperpolarization) shift in voltage-dependent activation and inactivation in ventricular myocytes
• a mixture of a high dose of caffeine and epinephrine does not promote ventricular arrhythmias as in wild-type mice, indicating protection of heart against stress-induced ventricular arrhythmias

homeostasis/metabolism
• a mixture of a high dose of caffeine and epinephrine does not promote ventricular arrhythmias as in wild-type mice, indicating protection of heart against stress-induced ventricular arrhythmias

nervous system
• ventricular myocytes exhibit an altered action potential waveform with a shorter action potential duration at 50% and prolonged action potential duration at 90%, however the action potential amplitude and resting membrane potential are unchanged

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
heart disease DOID:114 J:302151


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
11/12/2024
MGI 6.24
The Jackson Laboratory