Tg(C9orf72*)450BLagi
Transgene Detail

Summary

• Symbol: Tg(C9orf72*)450BLagi
• Name: transgene insertion 450B, Clotilde Lagier-Tourenne
• MGI ID: MGI:5776473
• Synonyms: C9^450B
• Transgene: Tg(C9orf72*)450BLagi Location: unknown
• Alliance: Tg(C9orf72*)450BLagi page

Transgene origin

• Strain of Origin: C57BL/6 x C3H

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Tg(C9orf72*)450BLagi expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  C9orf72 (203228)

  C9orf72

  (MGI:1920455)

  encodes a truncated isoform - exons 1-5 with TAA site and polyA signal

• Mutation details: The transgenic construct consists of a ~156 kbp human bacterial artificial chromosome (BAC) CH523-111K12 containing the human C9ALS patient-derived C9orf72 gene encoding a truncated short C9ORF72 isoform (222 aa; exons 1-5 with TAA site and polyA signal) with ~450 hexanucleotide repeat expansions (GGGGCC) in intron 1a. The BAC has ~140 kbp of transcriptionally-upstream (telomeric) flanking sequences that contain no other confirmed genes (May 2016). Founder line 10 or C9<450B> was identified with ~450 repeats and 3 to 4-fold greater expression of C9orf72 RNA compared to endogenous mouse C9orf72 RNA. (J:232242)

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

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

Notes

Phenotypic Similarity to Human Syndrome in Orthologous Human Gene: (FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1; FTDALS1)

References

• Original: J:232242 Jiang J, et al., Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs. Neuron. 2016 May 4;90(3):535-50
• All: 4 reference(s)