FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Hsap\TBCDY760stop.UAS
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General Information
Symbol
Hsap\TBCDY760stop.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0326365
Feature type
allele
Associated gene
Hsap\TBCD
Associated Insertion(s)
Carried in Construct
P{UAS-hTBCD.Y760stop}
Key Links
Transgenic product class
stop_gained
(Miyake et al., 2016)
Mutagen
Nature of the Allele
Transgenic product class
stop_gained
(Miyake et al., 2016)
Mutagen
in vitro construct
(Miyake et al., 2016)
Progenitor genotype
Carried in construct
P{UAS-hTBCD.Y760stop}
Cytology
Description

UAS regulatory sequences drive expression of Hsap\TBCD cDNA with an amino acid substitution (Tyr760 stop).

(Miyake et al., 2016)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Hsap\TBCD
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 ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 1 )
       

      Ectopic expression of Hsap\TBCDY760stop.Scer\UAS (unlike the expression of the wild-type Hsap\TBCDScer\UAS.cMa transgene) fails to produce strong improvement of the neuroanatomical defects in the TBCD1 fly model of neurodegenerative disease.

      (Miyake et al., 2016)
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Miyake et al., 2016)
      TBCD:p.Tyr760Ter
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: TBCD_268170
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference
      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

      The axonal as well as dendritic morphological defects observed in TBCD1 mutant olfactory projection neurons MARCM clones cannot be efficiently rescued by expression of Hsap\TBCDY760stop.Scer\UAS under the control of Scer\GAL4GH146.

      (Miyake 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 (2)
      Reported As
      Symbol Synonym
      Hsap\TBCDY760stop.Scer\UAS
      Hsap\TBCDY760stop.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)