FB2024_03 , released June 25, 2024
Allele: Dmel\aspt25
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General Information
Symbol
Dmel\aspt25
Species
D. melanogaster
Name
FlyBase ID
FBal0318737
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Mutagen
    Nature of the Allele
    Mutagen
    Progenitor genotype
    Cytology
    Description

    Approximately 750bp deletion which includes the asp promoter, proximal regulatory element, 5'UTR and first exon.

    Mutations Mapped to the Genome
    Curation Data
    Type
    Location
    Additional Notes
    References
    Variant Molecular Consequences
    Associated Sequence Data
    DNA sequence
    Protein sequence
     
    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 ( 1 )
    Disease
    Interaction
    References
    Comments on Models/Modifiers Based on Experimental Evidence ( 1 )
     

    aspt25 is used in trans to Df(3R)BSC519 to model primary autosomal recessive microcephaly 5.

    Disease-implicated variant(s)
     
    Phenotypic Data
    Phenotypic Class
    Phenotype Manifest In
    Detailed Description
    Statement
    Reference

    aspt25/Df(3R)BSC519 transheterozygous adults exhibit a smaller brain, due to a smaller and disorganized optic lobe, but not central brain, as compared to aspt25 heterozygous controls; the size and morphology of the lamina and the retina are severely compromised, and the ocelli were reduced in size, extremely disorganized or completely absent. The addition of either aspASH.GFP or aspC.GFP does not rescue the optic lobe defect and even leads to a smaller central brain, as compared to controls.

    In aspt25/Df(3R)BSC519 transheterozygotes, the cardia is reduced in volume, the midgut epithelium is thinner and the villi-like structures has altered morphology; egg chambers within the ovary are defective, consisting of only a few early-stage oocytes; there are no obvious defects in the heart, flight muscles or hindgut.

    Both aspt25/Df(3R)BSC519 transheterozygotes and aspt25 heterozygotes do not show changes in thorax width, as compared to controls.

    aspt25/aspt25 or aspt25/Df(3R)BSC519 adult flies are viable but sterile, with small heads compared to aspt25 heterozygotes. aspt25/aspt25 or aspt25/Df(3R)BSC519 third instar larval central neuroblasts have unfocused spindle poles and detached centrosomes. Early stages of mitosis (up to and including nuclear envelope breakdown) proceed similar to wild type in aspt25/Df(3R)BSC519 third instar larval central neuroblasts; shortly after nuclear envelope breakdown, centrosomes detach from the poles and move randomly around the cell - polarity establishment in these neuroblasts is not impaired and polarity is maintained through mitosis and associated with spindle poles, not wandering centrosomes. Some mother and daughter centrosomes go on to be correctly inherited, some swap positions before segregation, and in some cases both centrosomes are inherited by the neuroblast. Many aspt25/Df(3R)BSC519 third instar larval central neuroblasts have an extended metaphase duration (though no increase in mitotic index and no change in neuroblast numbers), whereas others have near wild type timing; there are no cases of complete mitotic arrest.

    External Data
    Interactions
    Show genetic interaction network for Enhancers & Suppressors
    Phenotypic Class
    Enhanced by
    NOT Enhanced by
    Statement
    Reference

    Df(3R)BSC519/aspt25 has abnormal size | adult stage phenotype, non-enhanceable by Wdr62[+]/Wdr62Δ3-9

    Suppressed by
    NOT suppressed by
    Other
    Phenotype Manifest In
    Enhanced by
    NOT Enhanced by
    Statement
    Reference

    Df(3R)BSC519/aspt25 has neuropil | adult stage phenotype, non-enhanceable by RelE38

    Df(3R)BSC519/aspt25 has medulla phenotype, non-enhanceable by RelE38

    Df(3R)BSC519/aspt25 has neuropil | adult stage phenotype, non-enhanceable by Dif1

    Df(3R)BSC519/aspt25 has medulla phenotype, non-enhanceable by Dif1

    Df(3R)BSC519/aspt25 has medulla phenotype, non-enhanceable by RelE38/Dif1

    Df(3R)BSC519/aspt25 has adult optic lobe phenotype, non-enhanceable by Wdr62[+]/Wdr62Δ3-9

    Suppressed by
    Statement
    Reference
    NOT suppressed by
    Statement
    Reference
    Other
    Additional Comments
    Genetic Interactions
    Statement
    Reference

    aspt25/+, Wdr62Δ3-9/Df(2L)Exel8005 and aspt25/+, Wdr62Δ3-9/+ adults do not show changes in optic lobe size, as compared to heterozygous controls; aspt25/Df(3R)BSC519, Wdr62Δ3-9/+ adults show a smaller optic lobe that is similar to aspt25/Df(3R)BSC519 but does not show changes in the size of the central brain, as compared to controls; aspt25/Df(3R)BSC519, Wdr62Δ3-9/Df(2L)Exel8005 adults show a smaller optic lobe than aspt25/Df(3R)BSC519 adults and a smaller central brain than controls.

    Xenogenetic Interactions
    Statement
    Reference
    Complementation and Rescue Data
    Comments

    aspUbi.FL (but not aspN.Ubi, aspC.Ubi or aspΔIQ.Ubi) rescues unfocused spindle pole phenotypes seen in aspt25/Df(3R)BSC519. aspUbi.FL, aspN.Ubi or aspΔIQ.Ubi (but not aspC.Ubi) rescues reduced brain size seen in aspt25/Df(3R)BSC519 adults.

    Images (0)
    Mutant
    Wild-type
    Stocks (0)
    Notes on Origin
    Discoverer
    External Crossreferences and Linkouts ( 0 )
    Synonyms and Secondary IDs (2)
    Reported As
    Name Synonyms
    Secondary FlyBase IDs
      References (3)