FB2024_03 , released June 25, 2024
Allele: Zzzz\CTGi960.UAS
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General Information
Symbol
Zzzz\CTGi960.UAS
Species
a. artificial
Name
FlyBase ID
FBal0294138
Feature type
allele
Associated gene
Zzzz\CTG
Associated Insertion(s)
Carried in Construct
P{UAS-iCTG.960}
Transgenic product class
short_tandem_repeat_expansion
(Picchio et al., 2013)
Mutagen
Nature of the Allele
Transgenic product class
short_tandem_repeat_expansion
(Picchio et al., 2013)
Mutagen
in vitro construct
(Picchio et al., 2013)
Progenitor genotype
Carried in construct
P{UAS-iCTG.960}
Cytology
Description

UAS regulatory sequences drive expression of 960 interrupted CTG repeats (20 CTG units interrupted by the sequence CTCGA).

(Picchio et al., 2013)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Zzzz\CTG
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  myotonic dystrophy type 1
      CEA
      (Souidi et al., 2023, Picchio et al., 2013)
      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.
      (Picchio et al., 2013)
      DMPK:n.3_prime_UTR[960CUG,interrupted]
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      DMPK, (CTG)n REPEAT EXPANSION, 3-PRIME UTR
      DMPK:n.3_prime_UTR[960CTG,interrupted]
      Associated human disease model(s)
      External database links
      ClinVar: 5049
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Larval muscles expressing Zzzz\CTGi960.Scer\UAS under the control of Scer\GAL4Mef2.PR accumulate nuclear foci.

      Expression of Scer\GAL4Mef2.PR>Zzzz\CTGi960.Scer\UAS in muscles is lethal in about 30% of embryos.

      Larvae expressing Scer\GAL4Mef2.PR>Zzzz\CTGi960.Scer\UAS show reduced motility.

      The body wall musculature of Scer\GAL4Mef2.PR>Zzzz\CTGi960.Scer\UAS third instar larvae display several abnormalities such as muscle splitting as well as loss of muscle fibers or presence of extra fibers. In addition, the muscles display a hyper-contracted phenotype.

      (Picchio et al., 2013)
      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 contractility index is restored in Scer\GAL4Mef2.PR>Zzzz\CTGi960.Scer\UAS larvae as a result of co-expression of Ca-P60AScer\UAS.mb.

      (Picchio et al., 2013)
      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\CTGi960.Scer\UAS
      Zzzz\CTGi960.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (3)