FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Hsap\TARDBPS5A.ΔN251.UAS.EGFP
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General Information
Symbol
Hsap\TARDBPS5A.ΔN251.UAS.EGFP
Species
H. sapiens
Name
FlyBase ID
FBal0263820
Feature type
allele
Associated gene
Hsap\TARDBP
Associated Insertion(s)
Carried in Construct
P{UAS-hTDP.ND251.S5A}
Key Links
Transgenic product class
inframe_deletion
(Li et al., 2011)
missense_variant
(Li et al., 2011)
Mutagen
Nature of the Allele
Transgenic product class
inframe_deletion
(Li et al., 2011)
missense_variant
(Li et al., 2011)
Mutagen
in vitro construct
(Li et al., 2011)
Progenitor genotype
Carried in construct
P{UAS-hTDP.ND251.S5A}
Cytology
Description

Amino acid replacement: S379A.

(Li et al., 2011)

UAS regulatory sequences drive expression of a mutated form of the C-terminal 251 coding residues of Hsap\TARDBP where 5 serine residues have been substituted with alanine residues, tagged with EGFP.

(Li et al., 2011)

Amino acid replacement: S403A.

(Li et al., 2011)

Amino acid replacement: S404A.

(Li et al., 2011)

Amino acid replacement: S409A.

(Li et al., 2011)

Amino acid replacement: S410A.

(Li et al., 2011)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Hsap\TARDBP
Tagged with
EGFP
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
      model of  amyotrophic lateral sclerosis
      CEA
      (Li et al., 2011)
      model of  frontotemporal dementia
      CEA
      (Li et al., 2011)
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expression of Hsap\TARDBPS5A.ΔN251.Scer\UAS.T:Avic\GFP-EGFP after heat shock at 37[o]C under the control of Scer\GAL4Scer\FRT.Act5C results in the formation of a number of aggregates distributed within nuclear and cytoplasmic compartments (found in the salivary glands).

      Expression of Hsap\TARDBPS5A.ΔN251.Scer\UAS.T:Avic\GFP-EGFP pan-neuronally under the control of Scer\GAL4elav-C155 results in the formation of aggregates in perikarya and dendrites of multi-dendritic dendrite-arborization (md-da) neurons. Most of the aggregates are located in the cytoplasmic/dendritic compartments, and few are observed in nuclei.

      (Li et al., 2011)
      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\TARDBPS5A.ΔN251.Scer\UAS.T:Avic\GFP-EGFP
      Hsap\TARDBPS5A.ΔN251.UAS.EGFP
      Name Synonyms
      Secondary FlyBase IDs
        References (1)