Phenotypes associated with this allele

• Allele Symbol: Ryr2^tm2.1Swch
• Allele Name: targeted mutation 2.1, S R Wayne Chen
• Allele ID: MGI:5605476
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ryr2^tm2.1Swch/Ryr2^tm2.1Swch	involves: 129S1/Sv * 129X1/SvJ * Black Swiss	MGI:5605477
ht2	Ryr2^tm2.1Swch/Ryr2^+	involves: 129S1/Sv * 129X1/SvJ * Black Swiss	MGI:5605478
ht3	Ryr2^tm1.1Swch/Ryr2^tm2.1Swch	involves: 129S1/Sv * 129X1/SvJ * Black Swiss	MGI:5605479

Genotype
MGI:5605477

hm1

• Allelic Composition: Ryr2^tm2.1Swch/Ryr2^tm2.1Swch
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:214434 )

• embryonic lethal, with most embryos dying between E10.5 and E11.5

Genotype
MGI:5605478

ht2

• Allelic Composition: Ryr2^tm2.1Swch/Ryr2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

cardiovascular system

abnormal cardiovascular system physiology ( J:214434 )

• elevation of extracellular calcium or application of isoproterenol results in very few or no calcium waves in intact hearts unlike in wild-type mice which show increased frequency of spontaneous calcium waves

abnormal cardiac muscle contractility ( J:214434 )

• the L-type calcium channel current in cardiomyocytes is increased, resulting in a reduced excitation-contraction coupling gain

• the time to the peak of the calcium transient is increased in cardiomyocytes, whereas late decay times are shorter

• however, the rate of decay of caffeine-induced calcium transients is not different from wild-type cardiomyocytes

abnormal myocardial fiber physiology ( J:214434 )

• cardiomyocytes exhibit reduced propensity for spontaneous store overload-induced calcium release (SOICR)

• sarcoplasmic reticulum calcium content is greater in cardiomyocytes than in wild-type cells when bathed at 5 mM extracellular calcium to overload the sarcoplasmic reticulum, however sarcoplasmic reticulum calcium content under nonoverload conditions is not affected

muscle

abnormal cardiac muscle contractility ( J:214434 )

• the L-type calcium channel current in cardiomyocytes is increased, resulting in a reduced excitation-contraction coupling gain

• the time to the peak of the calcium transient is increased in cardiomyocytes, whereas late decay times are shorter

• however, the rate of decay of caffeine-induced calcium transients is not different from wild-type cardiomyocytes

Genotype
MGI:5605479

ht3

• Allelic Composition: Ryr2^tm1.1Swch/Ryr2^tm2.1Swch
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

cardiovascular system

abnormal cardiovascular system physiology ( J:214434 )

• mice are resistant to catecholaminergic polymorphic ventricular tachycardia induced by the administration of caffeine and epinephrine