FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Hsap\FUSR495X.UAS.Tag:HA
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General Information
Symbol
Hsap\FUSR495X.UAS.Tag:HA
Species
H. sapiens
Name
FlyBase ID
FBal0324820
Feature type
allele
Associated gene
Hsap\FUS
Associated Insertion(s)
Carried in Construct
P{UAS-HA-hFUS.R495X}
Key Links
Transgenic product class
stop_gained
(Jäckel et al., 2015)
Mutagen
Nature of the Allele
Transgenic product class
stop_gained
(Jäckel et al., 2015)
Mutagen
in vitro construct
(Jäckel et al., 2015)
Progenitor genotype
Carried in construct
P{UAS-HA-hFUS.R495X}
Cytology
Description

UASt regulatory sequences drive expression of a disease-related variant of Hsap\FUS (carries the R495X mutation that causes a premature stop codon). The protein is tagged at the N-terminal end with Tag:HA.

(Jäckel et al., 2015)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\FUS
Tagged with
Tag:HA
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 )
      Disease
      Evidence
      References
      DOES NOT model  amyotrophic lateral sclerosis type 6
      CEA
      (Jäckel et al., 2015)
      DOES NOT model  frontotemporal dementia
      CEA
      (Jäckel et al., 2015)
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 1 )
       

      The R495X mutation of Hsap\FUS frequently occurs in both familial and sporadic cases of amyotrophic lateral sclerosis and frontotemporal dementia, but almost no neurodegenerative phenotype is observed when this mutation is introduced into flies.

      (Jäckel et al., 2015)
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Jäckel et al., 2015)
      FUS:p.Arg495Ter
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      FUS:p.Arg491Ter
      FUS:p.Arg494Ter
      Associated human disease model(s)
      External database links
      ClinVar: FUS_29707ClinVar: FUS_89197
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expression of Hsap\FUSR495X.Scer\UAS.T:Ivir\HA1 driven by Scer\GAL4GMR.PF results in a mild rough eye phenotype, with mild ommatidial defects, and modest loss of pigmentation in the eye, as compared to controls.

      Expression of Hsap\FUSR495X.Scer\UAS.T:Ivir\HA1 driven by Scer\GAL4VGlut-OK371 does not result in obvious viability defects or significant defects in locomotion at either the third instar larval stage, as shown with larval righting assays, or adulthood (as shown with negative geotaxis assays at days 1 and 2 post eclosion), as compared to controls.

      (Jäckel 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

      Co-expression of either TrnGD33 or TrnGD14426 enhance the modest eye defects resulting from the expression of Hsap\FUSR495X.Scer\UAS.T:Ivir\HA1 driven by Scer\GAL4GMR.PF, as compared to controls.

      Co-expression of either Art1GD11959, Art1KK101196 or Art1JF01306 does not lead to a marked enhancement of the mild eye defects resulting from the expression of Hsap\FUSR495X.Scer\UAS.T:Ivir\HA1 driven by Scer\GAL4GMR.PF, as compared to controls.

      (Jäckel et al., 2015)
      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\FUSR495X.Scer\UAS.T:Ivir\HA1
      Hsap\FUSR495X.UAS.Tag:HA
      Name Synonyms
      Secondary FlyBase IDs
        References (2)