FB2026_03 , released September 17, 2026
Allele: Dmel\ATP7DMN.EGFP
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General Information
Symbol
Dmel\ATP7DMN.EGFP
Species
D. melanogaster
Name
FlyBase ID
FBal0326630
Feature type
allele
Associated gene
Dmel\ATP7
Associated Insertion(s)
Carried in Construct
M{gATP7-EGFP.DMN}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Mercer et al., 2017)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Mercer et al., 2017)
Mutagen
in vitro construct
(Mercer et al., 2017)
Progenitor genotype
Carried in construct
M{gATP7-EGFP.DMN}
Cytology
Description

A genomic fragment (Pacman clone CH3222-77E05) containing the entire ATP7 gene, which has been mutated to contain the amino acid replacement P1122S. This mutation is equivalent to the disease-associated P1386S mutation in the orthologous human ATP7A gene (associated with X-linked distal motor neuropathy). A EGFP tag has been inserted at the C-terminal end of the ATP7 open reading frame.

(Mercer et al., 2017)
Allele components
Component
Use(s)
Regulatory region(s)
ATP7
Encoded product / tool
ATP7
Tagged with
EGFP
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
X:11,863,291..11,863,291 [+]
Nucleotide change:

C11863291T

Amino acid change:

P1122S | ATP7-PB; P1122S | ATP7-PC

Reported amino acid change:

P1122S

Comment:

Analogous P1386S mutation in human ATP7A implicated in spinal muscular atrophy, distal, X-linked 3; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Mercer et al., 2017)
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.
      (Mercer et al., 2017)
      ATP7A:p.Pro1386Ser
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      ATP7A:p.Pro1308Ser
      Associated human disease model(s)
      External database links
      ClinVar: ATP7A_11795
      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
      Partially rescues

      ATP7DMN.EGFP partially rescues ATP7ΔP17

      (Mercer et al., 2017)
      Comments

      The lethality of ATP7ΔP17/Y hemizygous males can be weakly rescued by combination with ATP7DMN.T:Avic\GFP-EGFP as some flies survive to adulthood although when isolated as larvae and reared under density-controlled conditions without the presence of wild-type siblings no adults emerge. Combination with ATP7DMN.T:Avic\GFP-EGFP also restores the minimal post-hatching growth as well as mouthpart development and pigmentation defects of ATP7ΔP17 mutant male larvae.

      (Mercer et al., 2017)
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (2)
      Reported As
      Symbol Synonym
      ATP7DMN.EGFP
      ATP7DMN.T:Avic\GFP-EGFP
      Name Synonyms
      Secondary FlyBase IDs
        References (2)