FB2025_02 , released April 17, 2025
Allele: Dmel\AtpαTTTF
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General Information
Symbol
Dmel\AtpαTTTF
Species
D. melanogaster
Name
FlyBase ID
FBal0402343
Feature type
allele
Associated gene
Dmel\Atpα
Associated Insertion(s)
Carried in Construct
Key Links
Allele class

hypermorphic allele - molecular evidence

Mutagen
Nature of the Allele
Allele class

hypermorphic allele - molecular evidence

(Yuan et al., 2025)
Mutagen
CRISPR/Cas9
(Yuan et al., 2025)
gene targeting by homologous recombination
(Yuan et al., 2025)
Progenitor genotype
Cytology
Description

Amino acid replacement: I571T.

(Yuan et al., 2025)

Each of the amino acid changes (I571T, A576T, P579T, and D580F) is equivalent to a variant in the orthologous human ATP1A1 gene that is associated with Charcot-Marie-Tooth disease type 2 (I592T, A597T, P600T, and D601F respectively).

(Yuan et al., 2025)

Amino acid replacement: A576T.

(Yuan et al., 2025)

Amino acid replacement: P579T.

(Yuan et al., 2025)

Amino acid replacement: D580F.

(Yuan et al., 2025)
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  Charcot-Marie-Tooth disease type 2DD
      CEA
      (Yuan et al., 2025)
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      Phenotypic 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
      AtpαTTTF
      (Yuan et al., 2025)
      Name Synonyms
      Secondary FlyBase IDs
        References (1)