FB2025_01 , released February 20, 2025
Allele: Hsap\TBP80Q.UAS
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General Information
Symbol
Hsap\TBP80Q.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0263673
Feature type
allele
Associated gene
Hsap\TBP
Associated Insertion(s)
Carried in Construct
P{UAS-hTBP.80Q}
Key Links
Transgenic product class
trinucleotide_repeat_expansion
(Ren et al., 2011)
Mutagen
Nature of the Allele
Transgenic product class
trinucleotide_repeat_expansion
(Ren et al., 2011)
Mutagen
in vitro construct
(Ren et al., 2011)
Progenitor genotype
Hsap\TBPUAS.cRa
(Ren et al., 2011)
Carried in construct
P{UAS-hTBP.80Q}
Cytology
Description

Carries an expanded poly-Q tract in the second CAG repeat block with 80 glutamines.

(Ren et al., 2011)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Hsap\TBP
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  autosomal dominant cerebellar ataxia
      CEA
      (Ren et al., 2011)
      Modifiers Based on Experimental Evidence ( 1 )
      Disease
      Interaction
      References
      model of  autosomal dominant cerebellar ataxia
      is exacerbated by Su(H)VDRC.cUa
      (Ren et al., 2011)
      is ameliorated by Su(H)UAS.Tag:MYC
      (Ren et al., 2011)
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Ren et al., 2011)
      TBP:p.Gln58[80]
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      TBP:p.Gln58[80Gln]
      TBP, (CAG)n REPEAT EXPANSION
      Associated human disease model(s)
      External database links
      ClinVar: TBP_562072
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expression of Hsap\TBP80Q.Scer\UAS in the eye under the control of Scer\GAL4GMR.PU results in the collapse of the eye structure, a loss of pigmentation and severely disorganised photoreceptors. Ommatidial fusion is also observed. The eye defects worsen as flies age.

      While flies expressing Hsap\TBP80Q.Scer\UAS under the control of Scer\GAL4elav.PU at young ages perform similarly to aged-matched wild-type flies, they exhibit a late-onset locomotor impairment and exhibit shortened lifespan, as compared to controls.

      (Ren et al., 2011)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Enhanced by
      Statement
      Reference

      Hsap\TBP80Q.UAS, Scer\GAL4GMR.PU has visible phenotype, enhanceable by Su(H)VDRC.cUa, Scer\GAL4GMR.PU

      (Ren et al., 2011)
      Suppressed by
      Phenotype Manifest In
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference

      Expression of Su(H)VDRC.cUa under the control of Scer\GAL4GMR.PU enhances the eye abnormalities caused by the overexpression of Hsap\TBP80Q.Scer\UAS.

      Overexpression of Su(H)Scer\UAS.T:Hsap\MYC under the control of Scer\GAL4GMR.PU partially suppresses the eye abnormalities caused by the overexpression of Hsap\TBP80Q.Scer\UAS with an improvement in both the shape and organisation of ommatidia. Ommatidial fusion is no longer observed and pigment loss is less severe.

      (Ren et al., 2011)
      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\TBP80Q.Scer\UAS
      Hsap\TBP80Q.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)