Novel Animal Model For Laing Distal Myopathy (Mpd1) And Methods of Use Thereof
AssigneeThe Regents of the University of Colorado, a body corporate
InventorsLeslie Leinwand, Massimo Buvoli, Ada Buvoli, Genevieve Wilson
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Abstract
The inventive technology is directed to the generation of a novel transgenic mammalian model for the study of Laing distal myopathy. The novel animal model of the invention may include a transgenic animal, and preferably a transgenic mouse, expressing the β-myosin R1500P mutation transgene that produces one or more phenotypes associated with MPD1. The β-myosin R1500P mutation transgene may further be selectively expressed in fast muscle tissue of the transgenic animal.
Claims20
A Laing distal myopathy (MPD1) model animal expressing a β-myosin R1500P mutant transgene wherein the arginine (R) residue at amino acid position 1500 is substituted with a proline (P) residue, and wherein said transgene causes at least one pathological phenotype associated with MPD1.
The transgenic, non-human animal whose genome comprises a β-myosin R1500P mutant transgene wherein the arginine (R) residue at amino acid position 1500 is substituted with a proline (P) residue.
A modified non-human mammalian cell expressing a heterologous nucleotide, operably linked to a promoter, encoding a β-myosin R1500P mutant transgene according to SEQ ID NO. 1, or a fragment of variant thereof.
Dependencies are inferred from the claim text.