FB2024_03 , released June 25, 2024
Allele: Dmel\ATP7ALZ.EGFP
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General Information
Symbol
Dmel\ATP7ALZ.EGFP
Species
D. melanogaster
Name
FlyBase ID
FBal0326632
Feature type
allele
Associated gene
Dmel\ATP7
Associated Insertion(s)
Carried in Construct
M{gATP7-EGFP.ALZ}
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.ALZ}
Cytology
Description

A genomic fragment (Pacman clone CH3222-77E05) containing the entire ATP7 gene, which has been mutated to contain the amino acid replacement K552R. This mutation is equivalent to the disease-associated K832R mutation in the orthologous human ATP7A gene (associated with susceptibility to Alzheimer's disease). 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:11,861,447..11,861,447 [+]
Nucleotide change:

A11861447G

Amino acid change:

K552R | ATP7-PB; K552R | ATP7-PC

Reported amino acid change:

K552R

Comment:

Analogous K832R mutation in human ATP7B postulated to confer susceptibility to Alzheimer disease; 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)
      ATP7B:p.Lys832Arg
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      ATP7B:p.Lys721Arg
      ATP7B:p.Lys754Arg
      Associated human disease model(s)
      External database links
      ClinVar: ATP7B_35707
      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
      Fails to rescue

      ATP7ALZ.EGFP fails to rescue ATP7ΔP17

      (Mercer et al., 2017)
      Comments

      The lethality, minimal post-hatching larval growth as well as defective development and pigmentation of larval mouthparts characteristic for ATP7ΔP17/Y hemizygotes cannot be rescued by combination with ATP7ALZ.T:Avic\GFP-EGFP.

      (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
      ATP7ALZ.EGFP
      ATP7ALZ.T:Avic\GFP-EGFP
      Name Synonyms
      Secondary FlyBase IDs
        References (2)