Tg(C9orf72)500Lpwr

The bacterial artificial chromosome (BAC) clone (002:B7 subclone m5 30 (Chr9:27,527,137-27,625,470 [Human Genome, February 2009, GRCh37/hg19]) contains the full-length human C9orf72 gene with a range (20-1000) of hexanucleotide repeats (GGGGCC; or G4C2) in intron 1a. The BAC has ~52 kbp of transcriptionally-upstream (telomeric) and ~19 kbp of transcriptionally-downstream (centromeric) flanking sequences that contain no other complete loci or confirmed genes. The ~2 kbp of the Mps one binder kinase activator 3B loci (MOB3B) on the BAC does not include the MOB3B ATG initiation site. The BAC does not contain any portion of the neighboring interferon kappa gene (IFNK). The ~2.4 kbp pseudogene CTAGE12P locus is present in the telomeric sequences. Founder line 500 contains one copy of the transgene with approximately 500 repeats. The transgene has integrated on chromosome 6 (114,939,853-114,939,873 [mouse mm10]) resulting in a 20 bp deletion of genomic region in between the identified breakpoints. There are currently no genes annotated in this region. (J:101977, J:239579)