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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 (17 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


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
09/13/2016
MGI 6.05
The Jackson Laboratory