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General Information
Symbol
Dmel\Cep290mecH
Species
D. melanogaster
Name
FlyBase ID
FBal0301634
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Allele class
Nature of the Allele
Allele class
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Cytology
Nature of the lesion
Statement
Reference

cep290mecH has a deletion from bases 5040-5170, resulting in a frameshift and premature stop. cep290mecH includes residues 1-1471.

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

cep290mecH homo- and hemizygous mutants exhibit a severe proprioception defect.

cep290mecH mutants cannot stand, hold their wings erect nor cross their legs.

cep290mecH mutant thoracic mechanosensory bristles do not transduce the mechanoreceptor current but do exhibit a robust transepithelial potential, suggesting a cililary defect.

cep290mecH mutant mechanosensory neurons display dendrites, but these dendrites lack tubulin labeling of their cilia.

Developing spermatid axonemes are frequently absent or structurally defective in cep290mecH mutants. These defects are not seen in the centrioles of cep290mecH mutant spermatocytes or spermatids.

The length distribution of centriolar proteins is increased in cep290mecH mutant sperm. This increase is not observed in young spermatocytes that have not yet given rise to a cilium. Despite this, testis and mature spermatid length are normal in cep290mecH flies.

Although spermatocyte centrioles remain associated with the cell membrane in cep290mecHmutants, the size of the spermatocyte primary cilium is significantly reduced.

cep290mecH spermatocyte primary cilia lack organised axonemal microtubules.

cep290mecH spermatids faithfully form the membrane invagination of the ciliary cap. Approximately 8% of ciliary cap axonemes exhibit a normal structure in cep290mecH spermatocyte mutant spermatids.

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
Cep290mecH
Name Synonyms
Secondary FlyBase IDs
    References (2)