FB2024_03 , released June 25, 2024
Allele: Dmel\Npc1aunspecified
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General Information
Symbol
Dmel\Npc1aunspecified
Species
D. melanogaster
Name
FlyBase ID
FBal0221257
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Allele class
Mutagen
    Nature of the Allele
    Allele class
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    Progenitor genotype
    Cytology
    Description
    Mutations Mapped to the Genome
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    Variant Molecular Consequences
    Associated Sequence Data
    DNA sequence
    Protein sequence
     
    Expression Data
    Reporter Expression
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    Marker for
    Reflects expression of
    Reporter construct used in assay
    Human Disease Associations
    Disease Ontology (DO) Annotations
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    Disease-implicated variant(s)
     
    Phenotypic Data
    Phenotypic Class
    Phenotype Manifest In
    Detailed Description
    Statement
    Reference

    Npc1aunspecified males in which lethality has been rescued by expression of Npc1aScer\UAS.T:Avic\GFP-EYFP under the control of Scer\GAL42-286 are sterile. The seminal vesicles of the mutant males are much smaller than wild type and contain essentially no mature sperm, but an accumulation of sperm debris is seen in the basal region of the testis. A mild cytokinesis defect (penetrance 5.79%) is seen, but the mutants have a similar number of spermatids per cyst as wild type at the elongated stage. The individualisation complex assembles normally at the head region of the spermatid bundle in the mutant males. However, it gradually disintegrates as it moves along the cyst and scattered actin cones are seen. Some sperm nuclei are scattered along the cyst in the mutant males (in wild-type males they are clustered at the head of the cyst) and these scattered sperm nuclei lose their needle-like shape, becoming more condensed and rounded the further away from the head region they are. 28 +/- 16% of mutant spermatids show defects in individualisation and the average number of spermatids per cyst after individualisation is reduced to 54. Mutant spermatocytes show sterol accumulation and sterol trafficking defects. Individualisation defects are more severe at higher temperatures.

    The fertility of Npc1aunspecified males in which lethality has been rescued by expression of Npc1aScer\UAS.T:Avic\GFP-EYFP under the control of Scer\GAL42-286 is significantly increased by addition of 7-dehydrocholesterol in the food, but is not increased by the addition of cholesterol, ergosterol or sitosterol in the food.

    External Data
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    Phenotypic Class
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    Additional Comments
    Genetic Interactions
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    Xenogenetic Interactions
    Statement
    Reference
    Complementation and Rescue Data
    Partially rescued by
    Comments

    Expression of Npc1aScer\UAS.T:Avic\GFP-EYFP under the control of Scer\GAL42-286 partially rescues the Npc1aunspecified phenotype; animals are rescued to adulthood, but only 13.3% of the rescued males are fertile, and those that are fertile produce a smaller number of progeny than normal.

    Expression of Npc1aScer\UAS.T:Avic\GFP-EYFP under the control of either Scer\GAL4Hsp83.PA or Scer\GAL4tub.PU rescues the lethality of Npc1aunspecified animals and results in fertile males.

    Expression of Npc1aScer\UAS.T:Avic\GFP-EYFP under the control of either Scer\GAL4C587 or Scer\GAL4ptc-559.1 rescues the lethality of Npc1aunspecified animals but results in sterile males.

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    Mutant
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    Synonyms and Secondary IDs (1)
    Reported As
    Symbol Synonym
    Npc1aunspecified
    Name Synonyms
    Secondary FlyBase IDs
      References (2)