Tg(Prnp-FUS*R521C)3313Ejh
Transgene Detail

Summary

• Symbol: Tg(Prnp-FUS*R521C)3313Ejh
• Name: transgene insertion 3313, Eric J Huang
• MGI ID: MGI:5618414
• Synonyms: FUS-R521C
• Transgene: Tg(Prnp-FUS*R521C)3313Ejh Location: unknown
• Alliance: Tg(Prnp-FUS*R521C)3313Ejh page

Transgene origin

• Strain of Origin: (C57BL/6 x SJL)F1

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence, Modified isoform(s))
• Mutation: Insertion
• Tg(Prnp-FUS*R521C)3313Ejh expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  FUS (2521)

  Fus	(MGI:1353633)

• Mutation details: The transgenic construct contains an N-terminal FLAG-tagged, human fused in sarcoma R521C autosomal dominant mutant isoform (hFUS*R521C) that is associated with familial amyotrophic lateral sclerosis (FALS). The isoform encodes an autosomal dominant missense mutation in the nuclear localization signal at the C-terminus of FUS. The FLAG-tagged hFUS*R521C cDNA sequence (~1.5 kbp) was positioned downstream of the Syrian (golden) hamster prion protein (SHaPrP or Prnp) promoter sequences by insertion into SHaPrP exon 3. (J:209419)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

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:209419 Qiu H, et al., ALS-associated mutation FUS-R521C causes DNA damage and RNA splicing defects. J Clin Invest. 2014 Mar 3;124(3):981-99
• All: 5 reference(s)