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Phenotypes Associated with This Genotype
Genotype
MGI:3691621
Allelic
Composition
Casq2tm1Klmn/Casq2tm1Klmn
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Casq2tm1Klmn mutation (0 available); any Casq2 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Junctional sarcoplasmic reticulum lacks its visible content, and overall sarcoplasmic reticulum volume is increased in ventricular myocytes of Casq2tm1Klmn/Casq2tm1Klmn mice

cardiovascular system
• approximately 10% increase in heart to body weight ratio
• modest but statistically significant increase in ventricular wall thickness
• display a significantly slower heart rate but normal cardiac contractility, normal left-ventricular cavity size, and unchanged ECG parameters
• homozygous mice were viable and fertile
• exposure to catecholamine in homozygous mice myocytes caused polymorphic nonsustained ventricular tachycardia, a phenocopy of the human arrhythmias
• exhibited striking increases in sarcoplasmic reticulum volume and surface area
• exposure to catecholamines caused increased diastolic sarcoplasmic reticulum Ca2+ leak

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
catecholaminergic polymorphic ventricular tachycardia 2 DOID:0060676 OMIM:611938
J:114621


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
08/15/2017
MGI 6.10
The Jackson Laboratory