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Phenotypes Associated with This Genotype
Genotype
MGI:4443207
Allelic
Composition
Ryr2tm1.1Maya/Ryr2+
Genetic
Background
C57BL/6J-Ryr2tm1.1Maya
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ryr2tm1.1Maya mutation (0 available); any Ryr2 mutation (39 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• mice exhibit polymorphic ventricular premature contractions in response to light or sound unlike wild-type mice
• mice exposed to exercise or treatment with caffeine plus epinephrine exhibit bidirectional or polymorphic ventricular tachycardia unlike similarly treated wild-type mice
• cardiomyocytes from mice treated with isoproterenol exhibit an 80% decline in peak cell shortening and prolonged calcium ion transient compared with cardiomyocytes form similarly treated wild-type mice
• before or after treatment with isoproterenol, sarcoplasmic reticulum calcium ion content is less than in cardiomyocytes from similarly treated wild-type mice
• before or after treatment with isoproterenol, calcium ion spark frequency is higher than in cardiomyocytes from similarly treated wild-type mice
• mice treated with 100 nmol/L isoproterenol exhibit higher frequencies of spontaneous calcium ion waves and increased full duration at half maximum compared with similarly treated wild-type mice
• cardiomyocytes exhibit decreased free diastolic sarcoplasmic reticulum calcium ions compared with wild-type cells
• however, luminal calcium ion levels reach the same baseline as in wild-type mice after caffeine treatment and treatment with dantrolene abolishes abnormal spontaneous after potentials and calcium ion transients following treatment with isoproterenol
• after isoproterenol treatment, cardiomyocytes exhibit spontaneous calcium ion transients and spontaneous after potentials unlike similarly treated wild-type cells

homeostasis/metabolism
• mice exposed to exercise or treatment with caffeine plus epinephrine exhibit bidirectional or polymorphic ventricular tachycardia unlike similarly treated wild-type mice
• cardiomyocytes from mice treated with isoproterenol exhibit a decrease in time from peak to 80% decline in cell shortening and prolonged calcium ion transient compared with cardiomyocytes form similarly treated wild-type mice
• mice treated with 100 nmol/L isoproterenol exhibit higher frequencies of spontaneous calcium ion waves and increased full duration at half maximum compared with similarly treated wild-type mice
• after isoproterenol treatment, cardiomyocytes exhibit spontaneous calcium ion transients and spontaneous after potentials unlike similarly treated wild-type cells
• however, treatment with dantrolene abolishes abnormal spontaneous after potentials and calcium ion transients following treatment with isoproterenol

behavior/neurological
N
• unlike Ryr2tm2Amks homozygotes, mice do not exhibit spontaneous seizures or increased susceptibility to pharmacologically induced seizures following treatment with 4-aminopyridine and caffeine compared with wild-type mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
catecholaminergic polymorphic ventricular tachycardia 1 DOID:0060675 OMIM:604772
J:159451


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