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US 2026/0157352 A1Published application
Dystonia mouse models with overt dystonia
AssigneeUniversity of Florida Research Foundation, Inc.
InventorsYuqing LI, David E. VAILLANCOURT, Hong XING, Pallavi GIRDHAR
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Abstract
Provided herein are transgenic mouse models of DYT1 dystonia with partially conditional knock-in of the DYT1 dystonia trinucleotide deletion (ΔGAG) in exon 5 of the mouse Tor1a gene (also known as Dyt1). Also provided are methods of generating these mice and methods of their use for preclinical screening of potential dystonia therapeutics.
Claims20
A genetically modified mouse whose genome comprises a genetically modified Tor1a locus, wherein the genetically modified Tor1a locus comprises:
- (i) a Tor1a allele comprising a ΔGAG deletion associated with DYT1 dystonia in exon 5;
- and
- (ii) an inducible Tor1a allele comprising (a) loxP sites flanking a wild type exon 5 of Tor1a and (b) a downstream copy of exon 5 comprising the ΔGAG deletion associated with DYT1 dystonia.
A method of making a progeny mouse, comprising breeding:
- I. a first mouse whose genome comprises a genetically modified Tor1a locus, wherein the genetically modified Tor1a locus comprises:
- (i) a Tor1a allele comprising a ΔGAG deletion associated with DYT1 dystonia in exon 5;
- and
- (ii) an inducible Tor1a allele comprising (a) loxP sites flanking a wild type exon 5 of Tor1a and (b) a downstream copy of exon 5 comprising the ΔGAG deletion associated with DYT1 dystonia;
- with
- II. a second mouse whose genome comprises a Cre recombinase;
- such that a progeny mouse whose genome comprises the ΔGAG deletion associated with DYT1 dystonia in exon 5 in both alleles of the Tor1a locus in one or more cells or tissues is obtained,
- wherein the progeny mouse exhibits overt dystonia.
5 more elements
Dependencies are inferred from the claim text.