FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\GαoA221D
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General Information
Symbol
Dmel\GαoA221D
Species
D. melanogaster
Name
FlyBase ID
FBal0346306
Feature type
allele
Associated gene
Dmel\Gαo
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
CRISPR/Cas9
(Mast and DiPrimio, 2019.3.13)
gene targeting by homologous recombination
(Mast and DiPrimio, 2019.3.13)
Progenitor genotype
Cytology
Description

Amino acid replacement A221D in Gαo. This change mimics the A221D change found in a human GNAO1 variant associated with spastic paraparesis and dystonia. The A221D change was inserted along with a Disc\RFPDsRed.3xP3.cUa marker flanked by PBac ends that was then subsequently removed via PBac transposition. Transposition leaves behind a TTAA in an intron.

(Mast and DiPrimio, 2019.3.13)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
MNV
2R:10,461,163..10,461,165 [+]
Nucleotide change:

GCG10461163GAY

Comment:

Analogous to A221D mutation in human GNAO1 implicated in epilepsy-related symptoms; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change. The A221D change (requiring substitution at two bases (GCG to GAY) was inserted along with a Disc\RFPDsRed.3xP3.cUa marker flanked by PBac ends that was then subsequently removed via PBac transposition. Transposition leaves behind a TTAA in an intron.

(Mast and DiPrimio, 2019.3.13)
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.
      (Mast and DiPrimio, 2019.3.13)
      GNAO1:p.Ala221Asp
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: GNAO1_522843
      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 (1)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (2)
      Reported As
      Symbol Synonym
      GalphaoA221D
      (Mast and DiPrimio, 2019.3.13)
      GαoA221D
      Name Synonyms
      Secondary FlyBase IDs
        References (2)