FB2025_01 , released February 20, 2025
Allele: Dmel\app1
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General Information
Symbol
Dmel\app1
Species
D. melanogaster
Name
FlyBase ID
FBal0000680
Feature type
allele
Associated gene
Dmel\app
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: N107Y.

    (Matakatsu and Blair, 2008)

    Missense mutation at amino acid residue 107 and a frameshift at amino acid residue G464.

    (Matakatsu and Blair, 2008)
    Mutations Mapped to the Genome
    Curation Data
    Type
    Location
    Additional Notes
    References
    deletion
    3L:12,207,792..12,207,792 [-]
    Comment:

    An unspecified change in codon G464 (here annotated as a 1bp deletion) leads to a frameshift. A missense mutation in residue 107 is also found in app1.

    (Matakatsu and Blair, 2008)
    point_mutation
    3L:12,216,452..12,216,452 [-]
    Nucleotide change:

    A12216452T

    Amino acid change:

    N107Y | app-PH; N107Y | app-PI; N107Y | app-PJ; N107Y | app-PK; N107Y | app-PL; N107Y | app-PM; N107Y | app-PO; N107Y | app-PR; N107Y | app-PT

    Reported amino acid change:

    N107Y

    Comment:

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

    (Matakatsu and Blair, 2008)
    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)
         
        Phenotypic Data
        Phenotypic Class
        Phenotype Manifest In
        Detailed Description
        Statement
        Reference

        The distance between the anterior crossvein and the posterior crossvein is reduced in homozygous adults and one or more tarsal leg joints are lost or reduced.

        Weak planar cell polarity defects are seen in the wing in app1/Df(3L)BK9 animals.

        (Matakatsu and Blair, 2008)

        Crossveins close together; veins diverge at greater angle than wild type; effect visible in prepupal wing (FBrf0005070); legs short with four-jointed tarsi; the penultimate joint characteristically swollen (FBrf0004706); joint between second and third tarsal segments often incomplete; invaginations or internalization of cuticle seen in tarsi 1, 3 and 4 (FBrf0045354); thickset body. Posterior scutellars farther apart than normal; eyes smaller and flatter than normal, also bumpy; spread wings; thickened veins. RK1.

        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 complement

        appe6

        (Matakatsu and Blair, 2008)
        Comments
        Images (0)
        Mutant
        Wild-type
        Stocks (4)
        Notes on Origin
        Discoverer
        External Crossreferences and Linkouts ( 0 )
        Synonyms and Secondary IDs (1)
        Reported As
        Symbol Synonym
        app1
        (Matakatsu and Blair, 2008)
        Name Synonyms
        Secondary FlyBase IDs
          References (2)