FB2026_02 , released June 18, 2026
FB2026_02 , released June 18, 2026
Allele: Dmel\TbceHRD.Ubi.GFP
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General Information
Symbol
Dmel\TbceHRD.Ubi.GFP
Species
D. melanogaster
Name
FlyBase ID
FBal0366966
Feature type
allele
Associated gene
Dmel\Tbce
Associated Insertion(s)
Carried in Construct
P{Ubi-Tbce.HRD.GFP}
Key Links
Genomic Maps

Transgenic product class
inframe_deletion
(Métivier et al., 2021)
Mutagen
Nature of the Allele
Transgenic product class
inframe_deletion
(Métivier et al., 2021)
Mutagen
in vitro construct
(Métivier et al., 2021)
Progenitor genotype
Carried in construct
P{Ubi-Tbce.HRD.GFP}
Cytology
Description

A polyubiquitin promoter regulates expression of mutant Tbce cDNA (GM13256 clone) tagged at the C-terminal with GFP. The Tbce cDNA contains deletion of four amino acids downstream of the GKHN motif, to mimic the mutation found in human patients with Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome.

(Métivier et al., 2021)
Allele components
Component
Use(s)
Regulatory region(s)
Ubi-p63E
Encoded product / tool
Tbce
Tagged with
GFP
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
deletion
2R:6,043,162..6,043,173 [+]
Comment:

Analogous mutation in human TBCE implicated in Hypoparathyroidism-retardation-dysmorphism syndrome; mutation carried on in vitro construct.

(Métivier et al., 2021)
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 ( 0 )
      Disease
      Evidence
      References
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Métivier et al., 2021)
      TBCE:p.Ser52_Gly55del
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: 5290
      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
      Complementation and Rescue Data
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (1)
      Reported As
      Symbol Synonym
      TbceHRD.Ubi.GFP
      Name Synonyms
      Secondary FlyBase IDs
        References (2)