Phenotypes Associated with This Genotype

Genotype
MGI:3723301

• Allelic Composition: Casq2^tm1Jse/Casq2^tm1Jse
• Genetic Background: involves: FVB/N

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

Enlarged atria and ventricles in Casq2^tm1Jse/Casq2^tm1Jse hearts

cardiovascular system

increased heart atrium size ( J:124211 )

• at 35 weeks but not 15 weeks

cardiac hypertrophy ( J:124211 )

• while heart size is normal at week 15, mice exhibit enlarged left ventricle and atria at 35 weeks of age

• however, there is no evidence of fibrosis or myocyte disarray in hypertrophied hearts

heart left ventricle hypertrophy ( J:124211 )

• at 35 weeks but not at 15 weeks

decreased heart left ventricle muscle contractility ( J:124211 )

• at 35 weeks of age, left ventricle fractional shortening is reduced

abnormal sinus arrhythmia ( J:124211 )

• 4 mice have sinus node dysfunction with recurrent events of sinus bradycardia, nodal escape rhythms and short runs of atrial fibrillation induced by rapid atrial pacing

decreased heart rate ( J:124211 )

• resting heart rate is decreased

• however, PR, QRS and QT are normal

ventricular tachycardia ( J:124211 )

• 40% of mice exhibit nonsustained ventricular tachycardia and one mouse exhibited several episodes of prolonged sustained ventricular tachycardia

ventricular premature beat ( J:124211 )

• 80% of mice exhibit ventricular premature beats including couplets and triplets

abnormal myocardial fiber physiology ( J:124211 )

• cardiomyocytes exhibit prolonged calcium release and delayed uptake compared to wild-type cells

• unlike in wild-type mice, ephinepherine treatment decreases total calcium transients in myocytes

increased response of heart to induced stress ( J:124211 )

• stressed mice exhibit bidirectional ventricular tachycardia not observed in wild-type mice

• 80% of stressed mice exhibit atrial arrhythmias including atrial premature beats, short runs of supraventricular tachycardia and atrial fibrillation not observed in wild-type mice

muscle

heart left ventricle hypertrophy ( J:124211 )

• at 35 weeks but not at 15 weeks

decreased heart left ventricle muscle contractility ( J:124211 )

• at 35 weeks of age, left ventricle fractional shortening is reduced

homeostasis/metabolism

increased response of heart to induced stress ( J:124211 )

• stressed mice exhibit bidirectional ventricular tachycardia not observed in wild-type mice

• 80% of stressed mice exhibit atrial arrhythmias including atrial premature beats, short runs of supraventricular tachycardia and atrial fibrillation not observed in wild-type mice

growth/size/body

cardiac hypertrophy ( J:124211 )

• while heart size is normal at week 15, mice exhibit enlarged left ventricle and atria at 35 weeks of age

• however, there is no evidence of fibrosis or myocyte disarray in hypertrophied hearts

heart left ventricle hypertrophy ( J:124211 )

• at 35 weeks but not at 15 weeks

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
catecholaminergic polymorphic ventricular tachycardia 2		DOID:0060676	OMIM:611938	J:124211