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General Information
Symbol
Dmel\cacF
Species
D. melanogaster
Name
FlyBase ID
FBal0304759
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Mutagen
    Nature of the Allele
    Mutagen
    Mutations Mapped to the Genome
     
    Type
    Location
    Additional Notes
    References
    Nucleotide change:

    G11964639A

    Amino acid change:

    E989K | cac-PA; E989K | cac-PB; E989K | cac-PC; E989K | cac-PD; E989K | cac-PE; E989K | cac-PF; E989K | cac-PG; E989K | cac-PH; E989K | cac-PI; E989K | cac-PJ; E989K | cac-PL; E989K | cac-PM; E1095K | cac-PN; E989K | cac-PO; E989K | cac-PP; E989K | cac-PS; E989K | cac-PT; E989K | cac-PU

    Reported amino acid change:

    E989K

    Comment:

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

    Associated Sequence Data
    DNA sequence
    Protein sequence
     
     
    Progenitor genotype
    Cytology
    Nature of the lesion
    Statement
    Reference

    Amino acid replacement: E989K.

    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

    cacF eye somatic clone cells in 3-day-old flies display synaptic transmission defects as evidenced by the loss of 'on' and 'off' transients in their electroretinogram traces, however, their depolarization amplitude is not significantly different from wild-type rescue flies (i.e. combined with Dp(1;3)DC131 for genomic rescue). In 30-day-old flies the depolarization amplitude as well as the transients are significantly reduced compared to controls.

    3-day-old cacF mutant flies rescued with cacGR-R1673P display 'on' and 'off' transients that are actually larger compared to wild-type rescue flies but no restoration of transients is observed in cacF mutants rescued with cacGR-R1664Q. The depolarization amplitude is comparable among all the various genotypes. The loss of transients as well as the decreased depolarization amplitude observed in cacF mutant retinal cells at 30 days old flies is only improved in mutant flies of the same age rescued with cacGR-R1664Q but not cacGR-R1673P.

    30-day old cacF mosaic flies show a slight change in retinal morphology in the mutant clones but the photoreceptors retain all seven rhabdomeres and normal overall structure compared to cacF mutants rescued with Dp(1;3)DC131. cacF flies rescued with cacGR-R1664Q do not exhibit any obvious photoreceptor defects at this age, whereas flies rescued with cacGR-R1673P display photoreceptor degeneration (disrupted rhabdomeres, cytoplasm filled with autophagic vesicles).

    At the ultrastructural level, in cacF mutant photoreceptor cells display expanded terminals, accumulation of autophagic vacuoles and signs of synaptic degeneration at the level of lamina where they make connection with laminar neurons. These defects are partially rescued in cacF;cacGR-R1664Q flies, but the neurodegeneration is further exacerbated in cacF;cacGR-R1673P flies.

    cacF heterozygotes do not display any significant aberrations in their electroretinogram traces not even when combined with either cacGR-R1673P or cacGR-R1664Q genomic fragments.

    Flies carrying cacF mutant photoreceptor clones exhibit defects in synaptic transmission. Mosaic photoreceptors at day 3 show aberrantly expanded terminals that are more densely filled with synaptic vesicles when compared to controls. As the flies age the terminals expand further, and the cartridge structure in the lamina is lost. The number of capitate projections and active zones decrease dramatically, whereas the number of mitochondria per terminal is increased. There is an significant accumulation of autophagic vacuoles (AVs), in particular fusion-primed intermediate AVs, in aged photoreceptor terminals.

    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
    Rescued by
    Partially rescued by

    cacF is partially rescued by cacGR-R1673P

    cacF is partially rescued by cacGR-R1673P

    Not rescued by
    Comments

    The loss of 'on' and 'off' transients in electroretinogram traces from cacF mutant clone cells in the eye of 3-day-old flies is suppressible by combination with cacGR-R1673P (the transients are actually larger than in controls) but not cacGR-R1664Q as compared to wild-type rescue flies (i.e. carrying Dp(1;3)DC131 for genomic rescue); the depolarization amplitude is comparable among all the various genotypes.

    At 30 days of age, the transients loss is accompanied by decreased depolarization amplitude in cacF mosaic flies and either of these phenotypes can be significantly improved only by rescue with cacGR-R1664Q and not cacGR-R1673P.

    The ultrastructural defects observed in cacF mutant photoreceptor cells at the level of lamina where they make connection with laminar neurons - expanded terminals, accumulation of autophagic vacuoles and signs of synaptic degeneration - are partially rescued in cacF;cacGR-R1664Q flies, but the neurodegeneration is further exacerbated in cacF;cacGR-R1673P flies.

    Expression of cacCH321-60D21 rescues the lethality associated with cacF.

    Images (0)
    Mutant
    Wild-type
    Stocks (1)
    Notes on Origin
    Discoverer
    External Crossreferences and Linkouts ( 0 )
    Synonyms and Secondary IDs (1)
    Reported As
    Name Synonyms
    Secondary FlyBase IDs
      References (3)