FB2024_03 , released June 25, 2024
Allele: Hsap\FXN200GAA
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General Information
Symbol
Hsap\FXN200GAA
Species
H. sapiens
Name
FlyBase ID
FBal0364442
Feature type
allele
Associated gene
Hsap\FXN
Associated Insertion(s)
TI{TI}fh200GAA
Carried in Construct
Key Links
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
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.
      (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
      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 (1)
      Reported As
      Symbol Synonym
      Hsap\FXN200GAA
      Name Synonyms
      Secondary FlyBase IDs
        References (2)