About   Help   FAQ
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
10/29/2024
MGI 6.24
The Jackson Laboratory