FB2025_01 , released February 20, 2025
Allele: Dmel\Cep2901
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General Information
Symbol
Dmel\Cep2901
Species
D. melanogaster
Name
FlyBase ID
FBal0367215
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

Deletion (c.469-1174Del) in Cep290, resulting in a frameshift and a premature stop codon.

(Wu et al., 2020)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
deletion
3L:844,891..845,714 [+]
Comment:

A 706bp deletion at the 5' end of Cep290 (c.469-1174Del) that leads to a frameshift and early translation termination.

(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

      Cep2901 spermatocytes show transition zone assembly defects and extended axonemes; later spermatocytes and spermatids display defective association between basal bodies and the plasma membrane, although early spermatocytes still show basal bodies attached/close to the membrane; EM data shows that no cilia-like structures or transition zones are formed. Spermatid cysts are defective during elongation, with lost axonemes, and no mature sperms are produced.

      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
      Other
      Statement
      Reference

      Cep1621, Cep2901 has microtubule | spermatogenesis phenotype

      (Wu et al., 2024)
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference
      Complementation and Rescue Data
      Partially rescued by

      Cep2901 is partially rescued by Scer\GAL4elav-C155/Cep290UAS.GFP

      (Wu et al., 2020)

      Cep2901 is partially rescued by Cep290N+M.Ubi-p63E

      (Wu et al., 2020)

      Cep2901 is partially rescued by Cep290N.Ubi-p63E

      (Wu et al., 2020)
      Not rescued by

      Cep2901 is not rescued by Cep290C.Ubi-p63E

      (Wu et al., 2020)

      Cep2901 is not rescued by Cep290M.Ubi-p63E

      (Wu et al., 2020)
      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
      Cep2901
      cep2901
      (Wu et al., 2024, Wu et al., 2020)
      Name Synonyms
      Secondary FlyBase IDs
        References (2)