FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\Npc1a25A
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General Information
Symbol
Dmel\Npc1a25A
Species
D. melanogaster
Name
FlyBase ID
FBal0215839
Feature type
allele
Associated gene
Dmel\Npc1a
Associated Insertion(s)
P{?EPgy2}Npc1a25A
Carried in Construct
Key Links
Allele class

hypomorphic allele - genetic evidence

Mutagen
Nature of the Allele
Allele class

hypomorphic allele - genetic evidence

(Fluegel et al., 2006)
Mutagen
P-element activity
(Fluegel et al., 2006)
Progenitor genotype
P{EPgy2}Npc1aEY00751
(Fluegel et al., 2006)
Associated Insertion(s)
P{?EPgy2}Npc1a25A
Cytology
Description

Imprecise excision of the P{EPgy2} element, with 650bp of the element remaining at the insertion site.

(Fluegel et al., 2006)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
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 ( 1 )
      Disease
      Evidence
      References
      model of  Niemann-Pick disease type C1
      CEA
      (Fluegel et al., 2006)
      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

      Moderate hypomorph.

      Homozygous third instar larvae often fail to pupariate, and of those that do enter the pupal stage, a fraction appear to do so aberrantly. These malformed pupae arrest further development and die during this quasi-pupal stage. A few homozygous adult escapers are recovered, and these animals appear to be morphologically and behaviourally normal and have an apparently normal life span. These adults escapers have normal brain morphology.

      (Fluegel et al., 2006)
      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
      Comments
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (3)
      Reported As
      Symbol Synonym
      NPC125A
      NPC1a25A
      (Fluegel et al., 2006)
      Npc1a25A
      Name Synonyms
      Secondary FlyBase IDs
        References (1)