FB2025_01 , released February 20, 2025
Allele: Zzzz\CCTG1100.UAS
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General Information
Symbol
Zzzz\CCTG1100.UAS
Species
a. artificial
Name
FlyBase ID
FBal0326783
Feature type
allele
Associated gene
Zzzz\CCTG
Associated Insertion(s)
Carried in Construct
P{UAS-CCTG.1100}
Transgenic product class
short_tandem_repeat_expansion
(Cerro-Herreros et al., 2017)
Mutagen
Nature of the Allele
Transgenic product class
short_tandem_repeat_expansion
(Cerro-Herreros et al., 2017)
Mutagen
in vitro construct
(Cerro-Herreros et al., 2017)
Progenitor genotype
Carried in construct
P{UAS-CCTG.1100}
Cytology
Description

UASt regulatory sequences drive expression of 1100 copies of a pure CCTG repeat.

(Cerro-Herreros et al., 2017)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Zzzz\CCTG
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  myotonic dystrophy type 2
      is ameliorated by Hsap\MBNL1UAS.cGCa
      (Sellier et al., 2018)
      is ameliorated by Hsap\RBFOX1UAS.EGFP
      (Sellier et al., 2018)
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Cerro-Herreros et al., 2017)
      CNBP:n.intron1[1100CCUG]
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      CNBP, (CCTG)n REPEAT EXPANSION
      CNBP:n.intron1[1100CCTG]
      Associated human disease model(s)
      External database links
      ClinVar: 17564
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expression of Zzzz\CCTG1100.Scer\UAS under the control of Scer\GAL4Mhc.PW leads to decreased adult lifespan, defects in adult locomotion (climbing or flight abilities) and reduced indirect flight muscles area in either 3-day or 30-day-old flies relative to age-matched controls, moreover vacuolization and muscle splitting is observed in the aged flies.

      Scer\GAL4tin.cBa-driven expression also reduces adult lifespan and it induces cardiac function defects (increased heart period, prolonged both diastolic and systolic intervals, reduced heart tube contractility and increased arrhythmia), but adult locomotion (either climbing or flight) is not significantly affected.

      (Cerro-Herreros et al., 2017)
      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
      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
      Zzzz\CCTG1100.Scer\UAS
      Zzzz\CCTG1100.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (3)