FB2024_04 , released June 25, 2024
Allele: Dmel\Pdha121A
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General Information
Symbol
Dmel\Pdha121A
Species
D. melanogaster
Name
FlyBase ID
FBal0319270
Feature type
allele
Associated gene
Dmel\Pdha1
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
    Nature of the Allele
    Allele class
    Mutagen
    Progenitor genotype
    Cytology
    Description

    Amino acid replacement: G170E.

    (Jaiswal et al., 2015)
    Mutations Mapped to the Genome
    Curation Data
    Type
    Location
    Additional Notes
    References
    point_mutation
    X:4,703,802..4,703,802 [+]
    Nucleotide change:

    G4703802A

    Amino acid change:

    G126E | l(1)G0334-PD; G55E | l(1)G0334-PB; G170E | l(1)G0334-PC; G126E | l(1)G0334-PA

    Reported amino acid change:

    G170E

    Comment:

    Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.

    (Jaiswal et al., 2015)
    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  retinal degeneration
        CEA
        (Jaiswal et al., 2015)
        Modifiers Based on Experimental Evidence ( 0 )
        Disease
        Interaction
        References
        Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
         
        Disease-implicated variant(s)
         
        Phenotypic Data
        Phenotypic Class
        Phenotype Manifest In
        Detailed Description
        Statement
        Reference

        l(1)G033421A/l(1)G033421A mutant eye clones show normal electroretinograms (ERGs) in young flies or flies aged in complete darkness; 7 day constant light exposure nearly abolishes ERG amplitude in mutants but not controls. Mutants fail to sustain ERG amplitude upon repetitive stimulation in young animals.

        (Jaiswal et al., 2015)
        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 (4)
        Reported As
        Symbol Synonym
        Pdha121A
        Pdha21A
        l(1)G033421A
        pdha21A
        (Jaiswal et al., 2015)
        Name Synonyms
        Secondary FlyBase IDs
          References (1)