Phenotypes associated with this allele

• Allele Symbol: Ryr2^tm3.1Hhv
• Allele Name: targeted mutation 3.1, Hector H Valdivia
• Allele ID: MGI:5750602
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ryr2^tm3.1Hhv/Ryr2^tm3.1Hhv	involves: 129S7/SvEvBrd * C57BL/6	MGI:6104249
ht2	Ryr2^tm3.1Hhv/Ryr2^+	involves: 129S7/SvEvBrd * C57BL/6	MGI:6104247

Genotype
MGI:6104249

hm1

• Allelic Composition: Ryr2^tm3.1Hhv/Ryr2^tm3.1Hhv
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

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

mortality/aging

prenatal lethality, complete penetrance ( J:220671 )

• no viable homozygotes are obtained

Genotype
MGI:6104247

ht2

• Allelic Composition: Ryr2^tm3.1Hhv/Ryr2⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

cardiovascular system

decreased heart rate ( J:220671 )

• bradycardia at baseline

• however, mice exhibit normal fractional shortening and ejection fraction and show no gross structural alterations of the heart

ventricular fibrillation ( J:220671 )

• 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

abnormal myocardial fiber physiology ( J:220671 )

• 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