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Phenotypes Associated with This Genotype
Genotype
MGI:4354215
Allelic
Composition
Casq2tm1.1Sgp/Casq2tm1.1Sgp
Genetic
Background
involves: 129X1/SvJ * C57BL/6NCrL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Casq2tm1.1Sgp mutation (0 available); any Casq2 mutation (19 available)
phenotype observed in females
phenotype observed in males
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
DO ID OMIM ID(s) Ref(s)
catecholaminergic polymorphic ventricular tachycardia 2 DOID:0060676 OMIM:611938
J:151367


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/13/2017
MGI 6.10
The Jackson Laboratory