Table 1.
Genes associated with PCD-like syndrome in vertebrate model organisms.
| Mutated Gene | Model Organism | Localization in Cilia | Phenotype | Ref |
|---|---|---|---|---|
| AK7 | Mouse | n/d | Reduced ciliary beat frequency, significant number of cilia lacking CA (9 + 0), or with displaced peripheral doublet without CA (8 + 1) or with CA; hydrocephalus, mucus accumulation in the paranasal passages, exacerbated respiratory responses upon allergen challenge, male infertility, situs inversus not detected | [244] |
| CFAP54 | Mouse | C1d projection (based on studies in Chlamydomonas) [208,209] | Reduced ciliary beat frequency, lost C1d projection hydrocephalus, male infertility, and accumulation of mucus in the sinuses | [245] |
| SPAG6/PF16 | Mouse | Central apparatus (based on studies in Chlamydomonas) [246] | Reduced ciliary beat frequency, asynchronous beating, reduction in cilia density, normal axoneme structure but random orientation of CA hydrocephalus, male infertility random orientation of basal feet of the basal bodies |
[247] |
| c15orf26/CFAP161 | Zebrafish | n/d | Missing outer dynein arms, pronephric cysts, axis curvature, laterality defects, hydrocephalus | [148] |
| LRRC48/FAP134/DRC3 | Mouse | N-DRC (based on studies in Chlamydomonas) [164] | Hydrocephalus, laterality defects, male infertility, accumulation of mucus in the sinuses | [170] |
AK7: Adenylate kinase 7; CA: Central apparatus; CFAP: Cilia- and flagella-associated protein; PCDP: Primary ciliary dyskinesia protein; PF: Paralyzed flagella; SPAG: Sperm-associated antigen; n/d: Not determined.