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General Information
Symbol
Dmel\MetRS-mHV
Species
D. melanogaster
Name
FlyBase ID
FBal0269091
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Allele class
Mutagen
    Nature of the Allele
    Allele class
    Mutagen
    Mutations Mapped to the Genome
     
    Type
    Location
    Additional Notes
    References
    Nucleotide change:

    T14259717A

    Amino acid change:

    V42D | MetRS-m-PA; V42D | MetRS-m-PB; V42D | MetRS-m-PC

    Reported amino acid change:

    V42D

    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: V42D.

    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 )
    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

    1 day old flies containing large clones of homozygous tissue in the eye have an electroretinogram (ERG) with a significantly reduced amplitude compared to wild type. The ERG amplitude decreases as the flies age.

    Aats-metHV/Aats-metFB adult escapers have normal ERGs at 1 day old, while the ERG is severely abnormal in 3 week old flies. The rhabdomeres and overall structure of the photoreceptors appears normal, with the correct number of photoreceptors per ommatidium in 1 day old flies. The total mitochondrial area in the mutant photoreceptors is greater than normal in 1 day and 1 week old flies. Lipid droplets are present in the pigment cells in mutant flies, a phenotype not seen in wild type. The photoreceptors and glial cells progressively degenerate, such that by 3 weeks of age, most photoreceptors are severely affected and many organelles are barely recognisable.

    Homozygous and Aats-metHV/Aats-metFB flies have shorter lifespans than normal and are unable to fly.

    The myofibrils of the indirect flight muscles appear intact in 1 day old Aats-metHV/Aats-metFB flies, but the mitochondria are clearly abnormal, being larger than normal. The myofibrils show defects in 1 week old flies and the mitochondria are very large.

    Aats-metHV/Df(3R)Exel7321 animals die as late third instar larvae or small pupae, and have small imaginal discs and larval brains.

    External Data
    Interactions
    Show genetic interaction network for Enhancers & Suppressors
    Phenotypic Class
    Suppressed by
    Statement
    Reference
    Phenotype Manifest In
    Additional Comments
    Genetic Interactions
    Statement
    Reference
    Xenogenetic Interactions
    Statement
    Reference

    Expression of Hsap\MARS2Scer\UAS.cBa under the control of Scer\GAL4Act5C.PU rescues the lethality of Aats-metHV/Df(3R)Exel7321 flies.

    Complementation and Rescue Data
    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
    Aats-met-mHV
    Aats-metHV
    MetRS-mHV
    Name Synonyms
    Secondary FlyBase IDs
      References (2)