FB2026_02 , released June 18, 2026
Allele: Dmel\Rrp40G146C
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General Information
Symbol
Dmel\Rrp40G146C
Species
D. melanogaster
Name
FlyBase ID
FBal0411095
Feature type
allele
Associated gene
Dmel\Rrp40
Associated Insertion(s)
TI{TI}Rrp40G146C
Carried in Construct
Key Links
Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
CRISPR/Cas9
(Higginson et al., 2026)
gene targeting by homologous recombination
(Higginson et al., 2026)
Progenitor genotype
Associated Insertion(s)
TI{TI}Rrp40G146C
Cytology
Description

The G146C missense mutation is introduced within endogenous Rrp40, along with a Disc\RFP3xP3.cUa marker flanked by loxP sites. This mutation is equivalent to a variant in the orthologous human EXOSC3 gene that is associated with a mild form of pontocerebellar hypoplasia type 1B.

(Higginson et al., 2026)
Allele components
Component
Use(s)
Also carries
loxP
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 ( 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.
      (Higginson et al., 2026)
      Phenotypic 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 (1)
      Reported As
      Symbol Synonym
      Rrp40G146C
      Name Synonyms
      Secondary FlyBase IDs
        References (1)