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Transgene Detail
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  
Strain of Origin:  (C57BL/6 x SJL)F1
Transgene Type:    Transgenic (Humanized sequence, Inserted expressed sequence, Modified isoform(s))
Mutation:    Insertion
Tg(Prnp-FUS*R521C)3313Ejh expresses 1 gene
Mutation detailsThe 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)
View phenotypes and curated references for all genotypes (concatenated display).
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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
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:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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MGI 6.15
The Jackson Laboratory