cep290mecH has a deletion from bases 5040-5170, resulting in a frameshift and premature stop. cep290mecH includes residues 1-1471.
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.
Cep290mecH is rescued by Cep290+tBa
Cep290mecH is rescued by Cep290UAS.Cep290.GFP