FB2026_02 , released June 18, 2026
Allele: Hsap\C9orf72160R.UAS
Open Close
General Information
Symbol
Hsap\C9orf72160R.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0323584
Feature type
allele
Associated gene
Hsap\C9orf72
Associated Insertion(s)
Carried in Construct
P{UAS-hC9orf72.160R}
Also Known As
UAS-(G4C2)160
Key Links
Transgenic product class
short_tandem_repeat_expansion
(Tran et al., 2015)
Mutagen
Nature of the Allele
Transgenic product class
short_tandem_repeat_expansion
(Tran et al., 2015)
Mutagen
in vitro construct
(Tran et al., 2015)
Progenitor genotype
Carried in construct
P{UAS-hC9orf72.160R}
Cytology
Description

UAS regulatory sequences drive expression of a Hsap\C9orf72 minigene consisting of non-coding exon 1b, part of the first intron and the first 44 non-coding nucleotides of exon 3. The intron contains 160 GGGGCC repeats.

(Tran et al., 2015)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Hsap\C9orf72
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Variant Molecular Consequences
Associated Sequence Data
DDBJ / EMBL / GenBank
DNA sequence
Protein sequence
 
UniProtKB/Swiss-Prot
    UniProtKB/TrEMBL
      Expression Data
      Reporter Expression
      Additional Information
      Statement
      Reference
       
      Marker for
      Reflects expression of
      Reporter construct used in assay
      Human Disease Associations
      Disease Ontology (DO) Annotations
      Models Based on Experimental Evidence ( 1 )
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Tran et al., 2015)
      C9orf72:n.intron1[160GGGGCC]
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      C9ORF72, (GGGGCC)n REPEAT EXPANSION
      C9ORF72, (G4C2)n REPEAT EXPANSION
      Associated human disease model(s)
      External database links
      ClinVar: C9orf72_31151
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expression of Hsap\C9orf72160R.Scer\UAS has no effect on: larval crawling ability (driven by Scer\GAL4Act5C.PI), dendritic branching of dda neurons in third instar larvae (with the Scer\GAL4221 driver), adult eye morphology (with Scer\GAL4[GMR.PU]) and it also does not induce cell death in glial cells in the larval brain (with Scer\GAL4repo).

      Sense RNAi foci are observed in the nuclei of neurons and glia expressing Hsap\C9orf72160R.Scer\UAS under the control of Scer\GAL4repo and Scer\GAL4VGlut-OK371 respectively, but the nuclear morphology is normal and the number of foci is the same at both 25[o]C and 29[o]C. Hsap\C9orf72160R.Scer\UAS has no adverse effect on adult lifespan (with the Scer\GAL4VGlut-OK371) at 25[o]C, but displays a moderate toxicity at 29[o]C as adult survival is slightly reduced.

      (Tran et al., 2015)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Phenotype Manifest In
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference
      Complementation and Rescue Data
      Comments
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (2)
      Reported As
      Symbol Synonym
      Hsap\C9orf72160R.Scer\UAS
      Hsap\C9orf72160R.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (4)