FB2024_03 , released June 25, 2024
Allele: Hsap\TARDBPUAS.cIa
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General Information
Symbol
Hsap\TARDBPUAS.cIa
Species
H. sapiens
Name
Saccharomyces cerevisiae UAS construct a of Ihara
FlyBase ID
FBal0299750
Feature type
allele
Associated gene
Hsap\TARDBP
Associated Insertion(s)
Carried in Construct
P{UAS-TARDBP.A}
Key Links
Transgenic product class
wild_type
(Ihara et al., 2013)
Mutagen
Nature of the Allele
Transgenic product class
wild_type
(Ihara et al., 2013)
Mutagen
in vitro construct
(Ihara et al., 2013)
Progenitor genotype
Carried in construct
P{UAS-TARDBP.A}
Cytology
Description

UAS regulatory sequences drive expression of Hsap\TARDBP.

(Ihara et al., 2013)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Hsap\TARDBP
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 ( 1 )
      Disease
      Interaction
      References
      model of  amyotrophic lateral sclerosis type 10
      is NOT exacerbated by Hsap\PFN1UAS.cMa
      (Matsukawa et al., 2016)
      is exacerbated by Hsap\PFN1C71G.UAS
      (Matsukawa et al., 2016)
      is exacerbated by Hsap\PFN1M114T.UAS
      (Matsukawa et al., 2016)
      is NOT exacerbated by chicNIG.9553R
      (Matsukawa et al., 2016)
      is ameliorated by Hsap\NEAT1UAS.1
      (Matsukawa et al., 2021)
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      The expression of Hsap\TARDBPUAS.cIa under the control of Scer\GAL4GMR.PU leads to the thinning of the adult retina.

      (Matsukawa et al., 2021)

      The expression of Hsap\TARDBPScer\UAS.cIa under the control of Scer\GAL4GMR.PU leads to eye morphology defects in 5 days old adults, including a significant decrease in retinal thickness, as compared to controls.

      (Matsukawa et al., 2016)

      The eyes of 5-day old flies expressing one copy of Hsap\TARDBPScer\UAS.cIa under the control of Scer\GAL4GMR.PU exhibit a very mild disturbance in the ommatidial alignment and bristle polarity compared with controls. The retina shows marked disruption of the regularly ordered arrays of photoreceptor cells by a number of large vacuoles intervening the ommatidia, associated with disordered distribution of nuclei of photoreceptor cells.

      When expression of one copy of Hsap\TARDBPScer\UAS.cIa under the control of Scer\GAL4GMR.PU is limited to the adult stages using Scer\GAL80ts.αTub84B no appreciable histological changes are observed in the retina at days 0 and 10, but scattered vacuolar degeneration is seen at day 30 and is exacerbated with age. The percentage of intact photoreceptors per retina also decreases with age. The phenotype is dose-dependent: more severe neurodegeneration is observed with two copies of Hsap\TARDBPScer\UAS.cIa.

      Expression of Hsap\TARDBPScer\UAS.cIa in motor neurons under the control of Scer\GAL4D42 significantly shortens lifespan compared to controls.

      (Ihara et al., 2013)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Phenotype Manifest In
      Enhanced by
      NOT Enhanced by
      Suppressed by
      Other
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference

      The eye morphology defects and retinal thinning observed in 5 days old adults upon expression of Hsap\TARDBPScer\UAS.cIa under the control of Scer\GAL4GMR.PU are exacerbated by the co-expression of Hsap\PFN1C71G.Scer\UAS or Hsap\PFN1M114T.Scer\UAS, but not Hsap\PFN1Scer\UAS.cMa or chicNIG.9553R, and even leads to a severe rough eye phenotype and ommatidial fusion and misalignment, as compared to controls.

      (Matsukawa et al., 2016)
      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\TARDBPScer\UAS.cIa
      Hsap\TARDBPUAS.cIa
      Name Synonyms
      Saccharomyces cerevisiae UAS construct a of Ihara
      Secondary FlyBase IDs
        References (3)