Phenotypes associated with this allele

• Allele Symbol: Ryr2^tm2Hhv
• Allele Name: targeted mutation 2, Hector H Valdivia
• Allele ID: MGI:5583980
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ryr2^tm2Hhv/Ryr2^tm2Hhv	involves: 129 * C57BL/6	MGI:5583982
ht2	Ryr2^tm2Hhv/Ryr2^+	involves: 129 * C57BL/6	MGI:5583981

Genotype
MGI:5583982

hm1

• Allelic Composition: Ryr2^tm2Hhv/Ryr2^tm2Hhv
• Genetic Background: involves: 129 * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

embryonic lethality, complete penetrance ( J:212870 )

• no homozygous embryos are seen as early as 9 days of gestation

Genotype
MGI:5583981

ht2

• Allelic Composition: Ryr2^tm2Hhv/Ryr2⁺
• Genetic Background: involves: 129 * C57BL/6

cardiovascular system

abnormal cardiovascular system physiology ( J:212870 )

• 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

irregular heartbeat ( J:212870 )

• 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

ventricular premature beat ( J:212870 )

• hearts under beta-adrenergic stimulation produce arrhythmic episodes characterized by premature ventricular complexes

abnormal myocardial fiber physiology ( J:212870 )

• 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