FB2024_03 , released June 25, 2024
Allele: Dmel\fh200GAA
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General Information
Symbol
Dmel\fh200GAA
Species
D. melanogaster
Name
FlyBase ID
FBal0364440
Feature type
allele
Associated gene
Dmel\fh
Associated Insertion(s)
TI{TI}fh200GAA
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
CRISPR/Cas9
(Russi et al., 2020)
gene targeting by homologous recombination
(Russi et al., 2020)
Progenitor genotype
Associated Insertion(s)
TI{TI}fh200GAA
Cytology
Description

An expanded GAA triplet-repeat from the first intron of the human Hsap\FXN gene, with a GAA repeat length of about 200 units and obtained by PCR from the genomic DNA of a patient with Friedreich ataxia, has been inserted into the intron of the orthologous D. melanogaster fh gene. The Hsap\FXN sequence includes sequence from the human first intron flanking each side of the GAA expansion (157bp upstream and 125bp downstream sequence).

(Russi et al., 2020)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
delins
X:9,148,659..9,148,681 [-]
Comment:

Reported as a portion of the first intron of Hsap\FXN amplified from a Friedreich ataxia patient sample, containing around 200 GAA repeats flanked by 157nt of intron upstream and 125nt downstream, inserted between position 13 and 37 of the fh intron.

(Russi et al., 2020)
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  Friedreich ataxia 1
      CEA
      (Russi et al., 2020)
      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.
      (Russi et al., 2020)
      FXN:n.intron1[200GAA]
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      FXN, (GAA)n REPEAT EXPANSION, IVS1
      Associated human disease model(s)
      External database links
      ClinVar: 561195
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      At 26[o]C, some fh200GAA homozygous larvae reach pupal stage and some larvae exhibit extended third instar larval stage (remain alive for up to 13 days of development and continue to feed and grow but without reaching the final weight of control larvae entering the pupal stage).

      At 16[o]C, some fh200GAA homozygotes reach the adult stage but they exhibit short lifespan.

      fh200GAA homozygotes exhibit short lifespan and reduced ability to climb when raised at 16[o]C and then transferred to 26[o]C after eclosion.

      fh200GAA adults expressing fhUAS.cAa under the control of Scer\GAL4da.Switch.PT exhibit sensitivity to oxidative stress induced either by hyperoxia or paraquat.

      fh200GAA adults expressing fhUAS.cAa under the control of Scer\GAL4da.Switch.PT exhibit short lifespan and reduced ability to climb when they are fed with RU486 during development but not during adulthood.

      (Russi et al., 2020)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      NOT suppressed by
      Statement
      Reference

      fh200GAA has lethal | recessive phenotype, non-suppressible by TspoUAS.cRa/Scer\GAL4da.Switch.PT

      (Russi et al., 2020)

      fh200GAA has lethal | recessive phenotype, non-suppressible by Scer\GAL4da.Switch.PT/TspoKK102775

      (Russi et al., 2020)

      fh200GAA has lethal | recessive phenotype, non-suppressible by Scer\GAL4da.Switch.PT/TspoGD788

      (Russi et al., 2020)
      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
      fh200GAA
      Name Synonyms
      Secondary FlyBase IDs
        References (2)