Tg(Prnp-FUS*H517Q)29Ljh

The transgenic construct contains a cDNA sequence encoding the human fused in sarcoma H517Q mutant isoform (hFUS*H517Q) associated with amyotrophic lateral sclerosis (ALS). The cDNA sequence is inserted between exon 2 and exon 3 of mouse prion protein (PrP or Prnp) gene. Line PQ29 is identified with ~2-4 copies of the transgene. The transgene encodes an autosomal recessive missense mutation in the nuclear localization signal at the C-terminus of FUS, resulting in mild mislocalization within the cytoplasm. (J:101977)