FB2025_01 , released February 20, 2025
Allele: Zzzz\GGGGCC44.LDS.UAS.GR-GFP
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General Information
Symbol
Zzzz\GGGGCC44.LDS.UAS.GR-GFP
Species
a. artificial
Name
FlyBase ID
FBal0350254
Feature type
allele
Associated gene
Zzzz\GGGGCC
Associated Insertion(s)
Carried in Construct
P{UAS-LDS-(G4C2)44.GR-GFP}
Also Known As
UAS-LDS-(G4C2)44
Transgenic product class
short_tandem_repeat_expansion
(Goodman et al., 2019)
Mutagen
Nature of the Allele
Transgenic product class
short_tandem_repeat_expansion
(Goodman et al., 2019)
Mutagen
in vitro construct
(Goodman et al., 2019)
Progenitor genotype
Carried in construct
P{UAS-LDS-(G4C2)44.GR-GFP}
Cytology
Description

UASt regulates expression of an expanded set (44 or fewer) of repeats of GGGGCC (G4C2) - such expanded repeats of GGGGCC within the first intron of Hsap\C9orf72 are the most prominent mutation in familial Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Degeneration (FTD). This construct also contains the 114-base pair sequence immediately upstream of the repeat in intron 1 of Hsap\C9orf72 in ALS/FTD patient genomes (termed a "leader" sequence; LDS). G4C2 expansions can produce three sense-strand associated dipeptides (GA, GR, and GP), and a GFP tag (lacking an ATG initiation codon) is included 3' of the repeat in the GR-reading frame.

(Goodman et al., 2019)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Zzzz\GGGGCC
Tagged with
GFP
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 )
      Comments on Models/Modifiers Based on Experimental Evidence ( 1 )
       

      FlyBase curator comment: "FTDALS1" is associated with G4C2 transcripts and dipeptide repeat proteins derived from human C9ORF72.

      (Goodman et al., 2019)
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Goodman et al., 2019)

      This construct encodes only the RNA repeat motif.

      C9orf72:n.intron1[44GGGGCC]
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      C9ORF72, (GGGGCC)n REPEAT EXPANSION
      C9ORF72, (G4C2)n REPEAT EXPANSION
      Associated human disease model(s)
      External database links
      ClinVar: C9orf72_31151
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Adults expressing Zzzz\GGGGCC44.LDS.UAS.GR-GFP under the control of Scer\GAL4GMR.PF show mild pigment loss and dramatic loss of retinal tissue.

      (Goodman et al., 2019)
      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 (1)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (1)
      Reported As
      Symbol Synonym
      Zzzz\GGGGCC44.LDS.UAS.GR-GFP
      Name Synonyms
      Secondary FlyBase IDs
        References (7)