Tg(Prnp-FUS*R521C)3313Ejh
Transgene Detail
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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
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Alliance: |
Tg(Prnp-FUS*R521C)3313Ejh page
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Transgene Type: |
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Transgenic (Humanized sequence, Inserted expressed sequence, Modified isoform(s)) |
Mutation: |
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Insertion
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Tg(Prnp-FUS*R521C)3313Ejh expresses
1 gene
Transgene expresses:
Organism |
Expressed Gene |
Homolog in Mouse |
Note |
human |
FUS (2521) |
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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)
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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
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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: |
3 reference(s) |
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