FB2025_02 , released April 17, 2025
Allele: Dmel\MitofilinLL02849
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General Information
Symbol
Dmel\MitofilinLL02849
Species
D. melanogaster
Name
FlyBase ID
FBal0337879
Feature type
allele
Associated gene
Dmel\Mitofilin
Associated Insertion(s)
PBac{SAstopDsRed}MitofilinLL02849
Carried in Construct
Also Known As
dMIC60LL02849, dMIC60mut
Key Links
Genomic Maps

Allele class

amorphic allele - molecular evidence

Mutagen
    Nature of the Allele
    Allele class

    amorphic allele - molecular evidence

    (Tsai et al., 2017)
    Mutagen
    Progenitor genotype
    Associated Insertion(s)
    PBac{SAstopDsRed}MitofilinLL02849
    Cytology
    Description
    Allele components
    Component
    Use(s)
    Inserted element
    PBac{SAstopDsRed}
    Mutations Mapped to the Genome
    Curation Data
    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

        MitofilinLL02849 mutant third instar larvae show widespread mitochondria defects, namely a "onion"-like phenotype in muscles, ventral nerve cord neuropils and cell bodies, neuromuscular junctions and segmental nerves, and loss of mitochondria crista junctions in muscles.

        (Tsai et al., 2018)

        MitofilinLL02849 homozygotes develop until the pupal stage but produce no adult offspring, while the heterozygotes reach adulthood. MitofilinLL02849 homozygous larvae display melanotic masses, and the pupal cases display an abnormal 'banana'-like shape.

        MitofilinLL02849 homozygous and MitofilinLL02849/Df(3L)Exel6118 transheterozygous third instar larvae display a significant impairment in crawling ability and their body wall muscles display abnormal 'onion'-like mitochondria, in which crista membranes form multiple concentric layers and crista junctions are lacking, as compared to controls; MitofilinLL02849 homozygous third instar larvae exhibit a severe decrease in both anterograde and retrograde axonal transport of mitochondria and their neuromuscular junctions exhibit a significant decrease in mitochondrial membrane potential (assessed by tetramethylrhodamine), a significant decrease in synaptic vesicle loading (in FM1-43 loading assay) at synaptic boutons, a significant increase in the number of branches, a significant increase in the number but reciprocal decrease in the size of boutons, and an abnormal T-bar shape in some presynaptic active zones, as compared to controls.

        (Tsai et al., 2017)
        External Data
        Interactions
        Show genetic interaction network for Enhancers & Suppressors
        Phenotypic Class
        Phenotype Manifest In
        NOT suppressed by
        NOT Suppressor of
        Other
        Additional Comments
        Genetic Interactions
        Statement
        Reference
        Xenogenetic Interactions
        Statement
        Reference

        MitofilinLL02849 heterozygotes expressing Hsap\IMMTA4V.UAS.Tag:MYC, Hsap\IMMTT11A.UAS.Tag:MYC, or Hsap\IMMTC17F.UAS.Tag:MYC, but not Hsap\IMMTUAS.Tag:MYC, Hsap\IMMTR25H.UAS.Tag:MYC or Hsap\IMMTR31C.UAS.Tag:MYC, under the control of Scer\GAL4Act.PU show severe lethality before adulthood and show "onion"-like mitochondria in larval body wall muscles. The Hsap\IMMTA4V.UAS.Tag:MYC, Hsap\IMMTT11A.UAS.Tag:MYC, Hsap\IMMTC17F.UAS.Tag:MYC and Hsap\IMMTR25H.UAS.Tag:MYC expressing conditions, but not the Hsap\IMMTUAS.Tag:MYC or Hsap\IMMTR31C.UAS.Tag:MYC expressing conditions also lead to impaired larval crawling.

        (Tsai et al., 2018)
        Complementation and Rescue Data
        Rescued by

        MitofilinLL02849 is rescued by MitofilinUAS.Tag:MYC/Scer\GAL4Tub.PU

        (Tsai et al., 2018)

        MitofilinLL02849 is rescued by Scer\GAL4Act.PU/MitofilinUAS.Tag:MYC

        (Tsai et al., 2017)
        Partially rescued by

        MitofilinLL02849 is partially rescued by Scer\GAL4Tub.PU/MitofilinT507A.T561A.UAS.Tag:MYC

        (Tsai et al., 2018)

        MitofilinLL02849 is partially rescued by MitofilinUAS.Tag:MYC/Scer\GAL4Tub.PU

        (Tsai et al., 2017)

        MitofilinLL02849 is partially rescued by Scer\GAL4elav.PU/MitofilinUAS.Tag:MYC

        (Tsai et al., 2017)
        Comments

        The expression of MitofilinScer\UAS.T:Hsap\MYC under the control of Scer\GAL4Act.PU rescues the lethality of MitofilinLL02849 homozygotes; the expression under the control of Scer\GAL4tub.PU ameliorates the impaired larval crawling ability displayed by MitofilinLL02849 homozygotes; the expression under the control of Scer\GAL4elav.PU ameliorates the decreased mitochondrial membrane potential (assessed by tetramethylrhodamine) at the third instar larval neuromuscular junction synaptic boutons of MitofilinLL02849 homozygotes.

        (Tsai et al., 2017)
        Images (0)
        Mutant
        Wild-type
        Stocks (1)
        Notes on Origin
        Discoverer
        External Crossreferences and Linkouts ( 0 )
        Synonyms and Secondary IDs (3)
        Reported As
        Symbol Synonym
        MitofilinLL02849
        dMIC60LL02849
        (Tsai et al., 2018, Tsai et al., 2017)
        dMIC60mut
        (Papakyrikos et al., 2020, Tsai et al., 2017)
        Name Synonyms
        Secondary FlyBase IDs
          References (3)