Mouse Genome Informatics
hm
    Casq2tm2Jse/Casq2tm2Jse
Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
cardiovascular system
• at 35 weeks but not 15 weeks
• 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
• at 35 weeks but not at 15 weeks
• at 35 weeks of age, left ventricle fractional shortening is reduced
• 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
• resting heart rate is decreased
• however, PR, QRS and QT are normal
• 40% of mice exhibit nonsustained ventricular tachycardia and one mouse exhibited several episodes of prolonged sustained ventricular tachycardia
• 80% of mice exhibit ventricular premature beats including couplets and triplets
• 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
• 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
• at 35 weeks of age, left ventricle fractional shortening is reduced

homeostasis/metabolism
• 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

Mouse Models of Human Disease
OMIM IDRef(s)
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2; CPVT2 611938 J:124211