Phenotypes Associated with This Genotype

Genotype
MGI:4354215

• Allelic Composition: Casq2^tm1.1Sgp/Casq2^tm1.1Sgp
• Genetic Background: involves: 129X1/SvJ * C57BL/6NCrL

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

cardiovascular system

abnormal myocardial fiber morphology ( J:151367 )

• junctional sarcoplasmic reticulum cisternae are wider and more variable in size compared to wild-type controls

• the chain like line of condensed CASQ2 is missing and the sarcoplasmic reticulum lumen is either empty or contains electron dense material that is not clustered

ventricular tachycardia ( J:151367 )

• develop bidirectional ventricular tachycardia due to environmental stress

ventricular premature beat ( J:151367 )

• spontaneous ventricular premature beats

abnormal myocardial fiber physiology ( J:151367 )

• at 5 Hz pacing 56% of myocytes developed delayed afterdepolarization and 28% developed triggered activity compared to 0% of wild-type controls

• incubation with epinephrine and 5 Hz pacing induces triggered activity in 43% of cell that did not develop triggered activity with 5 Hz pacing alone

• at 1 Hz pacing in the presence of epinephrine 4 of 17 mice develop early afterdepolarization

• sarcoplasmic reticulum Ca content is reduced by 35% compared to wild-type controls

muscle

abnormal myocardial fiber morphology ( J:151367 )

• junctional sarcoplasmic reticulum cisternae are wider and more variable in size compared to wild-type controls

• the chain like line of condensed CASQ2 is missing and the sarcoplasmic reticulum lumen is either empty or contains electron dense material that is not clustered

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
catecholaminergic polymorphic ventricular tachycardia 2		DOID:0060676	OMIM:611938	J:151367