Mouse Genome Informatics
hm
    Casq2tm1.1Sgp/Casq2tm1.1Sgp
involves: 129X1/SvJ * C57BL/6NCrL
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
cardiovascular system
• 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
• develop bidirectional ventricular tachycardia due to environmental stress
• spontaneous ventricular premature beats
• 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
• 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
OMIM IDRef(s)
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2; CPVT2 611938 J:151367