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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Casq2tm1Jse
targeted mutation 1, Jonathan G Seidman
MGI:3721900
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Casq2tm1Jse/Casq2tm1Jse involves: FVB/N MGI:3723301


Genotype
MGI:3723301
hm1
Allelic
Composition
Casq2tm1Jse/Casq2tm1Jse
Genetic
Background
involves: FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Casq2tm1Jse mutation (0 available); any Casq2 mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Enlarged atria and ventricles in Casq2tm1Jse/Casq2tm1Jse hearts

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 but not at 15 weeks
• 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

growth/size/body
• 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

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





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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory