Gt(ROSA)26Sor^tm1(DUX4)Sqh

The targeting construct contains from 5' to 3': a loxP-flanked transcriptional STOP cassette (neomycin cassette in reverse orientation) driven by the PGK promoter followed by human DUX4 exon 1 fused to a V5 epitope sequence, exon 2, exon 3, and a BGH polyA. Exon 3 derives from the chrom 4q pLAM region and contains the non-canonical 5'-ATTAAA-3' poly A signal utilized by the last DUX4 copy in facioscapulohumeral muscular dystrophy (FSHD) patients. The vector is inserted in the first intron of Gt(ROSA)26Sor locus. (J:268959)