Phenotypes Associated with This Genotype

Genotype
MGI:3691621

• Allelic Composition: Casq2^tm1Kpfe/Casq2^tm1Kpfe
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

Junctional sarcoplasmic reticulum lacks its visible content, and overall sarcoplasmic reticulum volume is increased in ventricular myocytes of Casq2^tm1Kpfe/Casq2^tm1Kpfe mice

cardiovascular system

increased heart weight ( J:114621 )

• approximately 10% increase in heart to body weight ratio

thick ventricular wall ( J:114621 )

• modest but statistically significant increase in ventricular wall thickness

decreased heart rate ( J:114621 )

• display a significantly slower heart rate but normal cardiac contractility, normal left-ventricular cavity size, and unchanged ECG parameters

• homozygous mice were viable and fertile

ventricular tachycardia ( J:114621 )

• exposure to catecholamine in homozygous mice myocytes caused polymorphic nonsustained ventricular tachycardia, a phenocopy of the human arrhythmias

abnormal myocardial fiber physiology ( J:114621 )

• exhibited striking increases in sarcoplasmic reticulum volume and surface area

• exposure to catecholamines caused increased diastolic sarcoplasmic reticulum Ca2+ leak

growth/size/body

increased heart weight ( J:114621 )

• approximately 10% increase in heart to body weight ratio

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
catecholaminergic polymorphic ventricular tachycardia 2		DOID:0060676	OMIM:611938	J:114621