Generating Conditional and Reverse Conditional Loss-of-Function Alleles in Mouse Casq2

Summary:

 The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) is seeking potential licensees interested in further developing or utilizing these Casq2 mouse strains. As a research tool, patent protection is not being pursued for this technology. More information to access these strains can be found here: https://www.jax.org/strain/036291 and https://www.jax.org/strain/036290.

Description of Technology:

Cardiac calsequestrin (Casq2) plays an essential role in maintaining cardiac Ca2+ homeostasis. Human CASQ2 mutations are associated with catecholaminergic polymorphic ventricular tachycardia (CPVT), a rare familial arrhythmogenic disorder within a group of diseases characterized as Sudden Arrhythmic Death.

The inventors have generated Casq2Flox and Casq2RevFlox mouse strains that model CPVT. The two novel strains successfully phenocopy aspects of CPVT, including stress-induced arrhythmias and reduced basal heart rates. The strains allow investigators to determine the importance of Casq2 gene function in specific tissues and at specific developmental time points. They also allow investigators to determine the efficacy of gene therapy and to address key mechanism questions. The materials are validated and fully functional.

Potential Commercial Applications:

• Study of Casq2 function
• Study of calcium storage in cardiac muscle and CPVT
• Determining the efficacy of gene therapy for CPVT

Competitive Advantages:

• Only available conditional and reverse conditional loss-of-function alleles in mouse Casq2
• Allows the study of Casq2 gene function in specific tissues and at specific developmental points