FB2026_03 , released September 17, 2026
Allele: Dmel\Npc1aI1060T
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General Information
Symbol
Dmel\Npc1aI1060T
Species
D. melanogaster
Name
FlyBase ID
FBal0346305
Feature type
allele
Associated gene
Dmel\Npc1a
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
CRISPR/Cas9
(Mast and DiPrimio, 2019.3.13)
gene targeting by homologous recombination
(Mast and DiPrimio, 2019.3.13)
Progenitor genotype
Cytology
Description

Amino acid replacement I1060T in Npc1a. This change is designed to mimic the I1061T change found in human NPC1 in patients with Neimann-Pick disease.

(Mast and DiPrimio, 2019.3.13)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2L:10,214,727..10,214,727 [-]
Nucleotide change:

T10214727C

Amino acid change:

I1060T | Npc1a-PA; I1060T | Npc1a-PB; I1060T | Npc1a-PC; I1060T | Npc1a-PD; I1056T | Npc1a-PE; I1056T | Npc1a-PF; I1056T | Npc1a-PG

Reported amino acid change:

I1060T

Comment:

Analogous to I1061T mutation in human NPC1 implicated in Neimann-Pick disease; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Mast and DiPrimio, 2019.3.13)
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 ( 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)
       
      This allele represents a human variant implicated in disease.
      (Mast and DiPrimio, 2019.3.13)
      NPC1:p.Ile1061Thr
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: NPC1_2967
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference
      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 (1)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (1)
      Reported As
      Symbol Synonym
      Npc1aI1060T
      (Mast and DiPrimio, 2019.3.13)
      Name Synonyms
      Secondary FlyBase IDs
        References (2)