FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\Cep290ΔC
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General Information
Symbol
Dmel\Cep290ΔC
Species
D. melanogaster
Name
FlyBase ID
FBal0367216
Feature type
allele
Associated gene
Dmel\Cep290
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
CRISPR/Cas9
(Wu et al., 2020)
Progenitor genotype
Cytology
Description

Single nucleotide deletion (c.4156delG) in Cep290; results in a frameshift and loss of the C-terminal end of the wild-type protein sequence (from residue 1386 onwards).

(Wu et al., 2020)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
deletion
3L:848,996..848,996 [+]
Comment:

Loss of a single G nucleotide in residue 1386 of Cep290 leads to a frameshift and truncation of the protein.

(Wu et al., 2020)
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)
       
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Cep290ΔC spermatocytes show transition zone assembly defects.

      Auditory cilia are almost completely lost in Cep2901 mutants; basal bodies that are very close to the plasma membrane, but there are no apparent transition zones or axonemes.

      (Wu et al., 2020)
      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 (2)
      Reported As
      Symbol Synonym
      Cep290ΔC
      cep290ΔC
      (Wu et al., 2024, Wu et al., 2020)
      Name Synonyms
      Secondary FlyBase IDs
        References (2)