FB2026_02 , released June 18, 2026
Allele: Dmel\Rrp40D87A
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General Information
Symbol
Dmel\Rrp40D87A
Species
D. melanogaster
Name
FlyBase ID
FBal0362379
Feature type
allele
Associated gene
Dmel\Rrp40
Associated Insertion(s)
TI{TI}Rrp40D87A
Carried in Construct
Key Links
Allele class

hypomorphic allele - genetic evidence

Mutagen
Nature of the Allele
Allele class

hypomorphic allele - genetic evidence

(Morton et al., 2020)
Mutagen
gene targeting by homologous recombination
(Morton et al., 2020)
CRISPR/Cas9
(Morton et al., 2020)
Progenitor genotype
Associated Insertion(s)
TI{TI}Rrp40D87A
Cytology
Description

The D87A missense mutation is introduced within endogenous Rrp40, along with a Disc\RFP3xP3.cUa marker flanked by loxP sites. This mutation is equivalent to a D132A change in the orthologous human EXOSC3 gene, a variant associated with pontocerebellar hypoplasia type 1B.

(Morton et al., 2020)
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 ( 1 )
      Disease
      Evidence
      References
      model of  pontocerebellar hypoplasia type 1B
      CEA
      (Morton et al., 2020)
      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.
      (Morton et al., 2020)
      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 (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (1)
      Reported As
      Symbol Synonym
      Rrp40D87A
      Name Synonyms
      Secondary FlyBase IDs
        References (1)