General Information:
Id: | 7,127 |
Diseases: |
Joubert syndrome 9
- [OMIM]
Meckel syndrome, type 6 - [OMIM] |
Mus musculus | |
article | |
Reference: | [PMID: 24947469] |
Interaction Information:
Comment | Cilia are absent in Cc2d2a-/- embryonic node and other somatic tissues; disruption of cilia-dependent Shh signalling appears to underlie exencephaly in mutant embryos. The Cc2d2a(-/-) mouse embryonic fibroblasts (MEFs) lack cilia, although mother centrioles and pericentriolar proteins are detected. |
Formal Description Interaction-ID: 70217 |
|
Comment | Shh signalling is perturbed in Cc2d2a-/- embryos. |
Formal Description Interaction-ID: 70218 |
|
Comment | Cc2d2a-/- fibroblasts have basal body but not ciliary axoneme. |
Formal Description Interaction-ID: 70219 |
|
Comment | The anti-Odf2 signal at the mother centriole (MC) was dramatically reduced in Cc2d2a-/- MEFs compared with the wild type. |
Formal Description Interaction-ID: 70220 |
|
Comment | The trichoplein signal was significantly reduced at the mother centriole (MC) in Cc2d2a-/- MEFs. |
Formal Description Interaction-ID: 70221 |
|
Comment | CC2D2A localizes to subdistal appendages (SDA), which anchor cytoplasmic microtubules and prime the mother centriole for axoneme biogenesis. |
Formal Description Interaction-ID: 70222 |
|