FB2024_03 , released June 25, 2024
Allele: Hsap\TARDBPD169G.UAS.YFP
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General Information
Symbol
Hsap\TARDBPD169G.UAS.YFP
Species
H. sapiens
Name
FlyBase ID
FBal0296675
Feature type
allele
Associated gene
Hsap\TARDBP
Associated Insertion(s)
Carried in Construct
P{UAS-TARDBP.D169G.YFP}
Key Links
Transgenic product class
missense_variant
(Estes et al., 2013)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Estes et al., 2013)
Mutagen
in vitro construct
(Estes et al., 2013)
Progenitor genotype
Carried in construct
P{UAS-TARDBP.D169G.YFP}
Cytology
Description

UASt regulatory sequences drive expression of a D169G mutant of Hsap\TARDBP with a C-terminal YFP tag.

(Estes et al., 2013)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\TARDBP
Tagged with
YFP
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
      (Estes et al., 2013)
      Modifiers Based on Experimental Evidence ( 1 )
      Disease
      Interaction
      References
      model of  amyotrophic lateral sclerosis
      is exacerbated by Pabp255
      (Chou et al., 2015)
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Estes et al., 2013)
      TARDBP:p.Asp169Gly
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: TARDBP_5233
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Overexpression of Hsap\TARDBPD169G.Scer\UAS.T:Avic\GFP-YFP driven in the adult retina by Scer\GAL4GMR.PU causes a neurodegeneration phenotype, with visible depigmentation.

      Overexpression of Hsap\TARDBPD169G.Scer\UAS.T:Avic\GFP-YFP driven in motor neurons by Scer\GAL4Toll-6-D42 in larvae results in locomotor dysfunction (significant increase in the amount of time taken for the larva to turn from dorsal side and resume crawling on the ventral side).

      (Chou et al., 2015)

      Expression of Scer\GAL4GMR.PU>Hsap\TARDBPD169G.Scer\UAS.T:Avic\GFP-YFP leads to age- and dose-dependent neurodegeneration as indicated by depigmentation in the eye.

      Expression of Hsap\TARDBPD169G.Scer\UAS.T:Avic\GFP-YFP in motor neurons under the control of Scer\GAL4D42 results in nuclear morphology defects and smaller synapses compared with wild-type. This anatomical phenotype is accompanied by an impairment in locomotor function, as indicated by a significant increase in larval turning time compared with controls.

      Expression of Hsap\TARDBPD169G.Scer\UAS.T:Avic\GFP-YFP in glial cells under the control of Scer\GAL4repo.PU affects nuclear shape. When tested for their ability to turn, larvae expressing Hsap\TARDBPD169G.Scer\UAS.T:Avic\GFP-YFP in glia under the control of Scer\GAL4repo.PU exhibit impaired locomotor function.

      Hsap\TARDBPD169G.Scer\UAS.T:Avic\GFP-YFP-expression leads to a mismatch of pre- and post-synaptic areas. Expression of Hsap\TARDBPD169G.Scer\UAS.T:Avic\GFP-YFP in motor neurons leads to a significant increase in the area of pre-synaptic active zones, while its expression in glia results in reduction in the size of post-synaptic areas.

      Both motor neuron and glial expression of Hsap\TARDBPD169G.Scer\UAS.T:Avic\GFP-YFP can lead to alterations in adult locomotion and sleep patterns.

      (Estes et al., 2013)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Phenotype Manifest In
      Enhanced by
      Statement
      Reference

      Hsap\TARDBPD169G.UAS.YFP, Scer\GAL4GMR.PU has eye phenotype, enhanceable by Pabp255

      (Chou et al., 2015)
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference

      Pabp255 enhances the neurodegeneration phenotype (visible as depigmentation of the eye) in flies with expression of Hsap\TARDBPD169G.Scer\UAS.T:Avic\GFP-YFP driven by Scer\GAL4GMR.PU.

      Pabp255 significantly enhances locomotor dysfunction seen in larvae with expression of Hsap\TARDBPD169G.Scer\UAS.T:Avic\GFP-YFP driven by Scer\GAL4GMR.PU.

      (Chou 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 (3)
      Reported As
      Symbol Synonym
      Hsap\TARDBPD169G.Scer\UAS.T:Avic\GFP-YFP
      Hsap\TARDBPD169G.UAS.YFP
      hD169G
      (Chou et al., 2015)
      Name Synonyms
      Secondary FlyBase IDs
        References (4)