Table 1.
Ciliopathy Genes modeled in Zebrafish and showing Eye and Kidney henotypes.
| Cilia Gene modeled in Zebrafish | Eye Phenotype | Kidney Phenotype | Disease | PMID |
|---|---|---|---|---|
| AHI1 mutant | Shortened cone outer segments Cone degeneration Rhodopsin mislocalization | Kidney cysts | JBTS | 28118669 |
| ARL13B mutant | Shortened photoreceptor outer segments retinal defects | Renal cysts | JBTS | 27571019 25138100 27153923 |
| ARL6 mutant | Retinopathy microphthalmia | Polydactylyrenal malformations | BBS | 15314642 15258860 |
| ARMC9 mutant | Retinal dystrophy | Fibrocystic kidney disease | JBTS | 28625504 |
| BBS5 Morphant | Morphants displayed retinal layering defects | Dilated cystic pronephric ducts | PKD,BBS NPHP,MKS |
24559376 18604564 |
| CC2D2A mutant | Shortened outer segments, Mislocalization of opsins and accumulation of vesicles | Pronephric cyst | JBTS MKS |
26485645 18950740 |
| Cdc42 Morphants | Smaller eyes | Cystic kidney | PKD | 23766535 |
| CEP41 Morphants | Smaller eyes | Cystic kidney | JBTS | 22246503 |
| CEP290 Morphants | Rod-cone dystrophy | Renal abnormalities | JBTS, LCA | 26301811 |
| CSPP1 Morphants | Smaller eyes | Pronephric cysts | JBTS | 24360808 |
| C8ORF37 morphants | Retinal degeneration | Renal cysts | JBTS | 27008867 |
| Exoc5 Mutants and Morphants | Smaller eyes Retinal lamination was lost Disorganization and lack of photoreceptor outer segments | Glomerular expansion left-right patterning defects | PKD | 28729419 21490950 |
| IFT122 mutation | Photoreceptor degeneration | Cystic kidney | RP | 27681595 |
| IFT81 mutation | Retinal dystrophy | Kidney cyst | Nonsyndromic retinal dystrophies | 28460050 |
| INPP5e Morphants | Smaller eyes | Cystic kidney | JBTS | 27401686 |
| KIAA0556 Morphants | Oculomotor apraxia nystagmus Dysmorphic photoreceptor outer segments | Kidney cysts | JBTS | 27245168 |
| NBCe1 mutation | Smaller eyes retinal distention | Pronephric ducts defect | renal tubular acidosis, glaucoma and cataracts | 19625604 |
| POC1B Mutation | Smaller eyes Retinal degeneration Reduce photoreceptor connecting cilia | Cystic kidney | JBTS, PKD, LCA | 25044745 |
| PDE6D Morphants | Disorganized retinal cell layers | Cloacal cysts distended pronephric tubules polydactyly and kidney hypoplasia | JBTS | 24166846 |
| RP2 Morphants | Affected the shedding of membrane discs from the distal end of the photoreceptor outer segment | Pronephric cysts | renal–retinal ciliopathies | 20729296 |
| RPGRIP1 Morphants | Smaller and underdeveloped eyes | Pronephric cyst formation | NPHP, RP | 20200501 |
| SDCCAG8 Morphants | Smaller eyes | Pronephric cysts | NPHP | 20835237 |
| TMEM67 mutation | Smaller eyes | Bilateral pronephric cysts | MKS | 23393159 |
| TTC26 Morphants | Eye morphology altered; outer segments of photoreceptor cells appeared shortened or absent | Tubule dilation; distended/dilated pronephric tubes and ducts | renal–retinal ciliopathies | 22718903 |