Transgenic model of human cardiomyopathy
AssigneesStichting Genetische Hartspierziekte PLN, Technische Universität München, in Vertretung des Freistaates Bayern
InventorsPieter GLIJNIS, Nikolai KLYMIUK, Petra Runa VOCHOZKOVA, Eckhard WOLF
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Abstract
A transgenic animal model is provided for studying human diseases, and in particular a transgenic ungulate is provided for studying human cardiomyopathies. For example, a transgenic ungulate is disclosed harbouring a knock-in of a transgene having at least a portion of a human PLN gene containing a mutation that results in an expression of at least a portion of a human PLN mutant protein correlated with a cardiomyopathy phenotype in human subjects. Advantageously, the transgenic ungulate as disclosed herein is a transgenic pig and/or the human PLN mutant protein is a human PLN R14del mutant protein.
Claims17
A transgenic ungulate comprises:
- a genome comprising at least one copy of a first transgene encoding for at least a first part of a human phospholamban (PLN) protein.
Dependencies are inferred from the claim text.