Tg(C9orf72)500Lpwr
Transgene Detail

Summary

• Symbol: Tg(C9orf72)500Lpwr
• Name: transgene insertion 500, Laura Ranum
• MGI ID: MGI:5919933
• Synonyms: C9-500
• Transgene: Tg(C9orf72)500Lpwr Location: unknown Genetic Position: Chr6, Syntenic
• Alliance: Tg(C9orf72)500Lpwr page

Transgene origin

• Strain of Origin: FVB/NJ

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Tg(C9orf72)500Lpwr expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  C9orf72 (203228)

  C9orf72

  (MGI:1920455)

• Mutation details: 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)

Disease models

Expression

In Structures Affected by this Mutation:

8 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Tg(C9orf72)500Lpwr

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available

References

• Original: J:239579 Liu Y, et al., C9orf72 BAC Mouse Model with Motor Deficits and Neurodegenerative Features of ALS/FTD. Neuron. 2016 May 04;90(3):521-34
• All: 15 reference(s)