Table 1 of
Kannabiran, Mol Vis 2020; 26:652-660. Table 1 of
Kannabiran, Mol Vis 2020; 26:652-660.
Table 1. Details of IFT genes and associated phenotypes.
| IFT locus | Mutants of IFT loci in model organisms | Retinal dystrophy in humans | |
|---|---|---|---|
| Model | Phenotype | ||
| IFT140 | Reduced mechanoreceptor potential A (rempA; Drosophila) [44] | Accumulation of IFT-B proteins and defective cilia | Non-syndromic RP, LCA |
| IFT139, IFT144 | Genome-editing mediated knockout cell lines [45] | Defects in retrograde transport | - |
| IFT122 (A, B) | Med1 mice | Knockout leads to IFT-B proteins at ciliary tips; impaired Sonic Hedgehog (Shh) signaling [46] | - |
| jj263 (zebrafish) | Absence of ONL, pronephric cysts, ciliary defects [21] | - | |
| IFT43 | ift43 (insertional mutant; Chlamydomonas) | Absent or defective flagella. Bulges at flagellar tip [47]. | Non-syndromic, early-onset rod-cone degeneration |
| IFT46 | ift46/bld1 mutant (Chlamydomonas); | Reduction in IFT-B1 and IFT-B2 proteins, shortened cilia, lack of outer dynein arm | |
| Ift46-/- mice | Embryo heart looping, defective patterning of L/R axis [48] | ||
| IFT25, IFT27 | ift25-/- mice | Defects in transport of opsins and signaling factors Patched 1 and Smoothened [49] | Bardet-Biedl syndrome |
| IFT172 | C. reinhardtii (fla11ts) | Accumulation of proteins at tip of flagella. | BBS-like syndromic disease; autosomal recessive RP |
| Zebrafish | Disorganized outer & inner segments, PR cell death [20] | ||
| IFT74 | ift74-1, ift74-2 (C. reinhardtii) | Failure of flagellar assembly. Decrease of IFT-B complex [50]. | - |
| IFT52 | ift52/bld1(C. reinhardtii) | Inability to form flagella. Destabilization of IFT-B1 complex [51]. | Syndromic LCA |
| IFT88 | Tg737 (mice) | Defects in photoreceptors with short outer segment, disorganized discs. Defects in cilia of kidneys, cystic kidneys [11,18] | Rod-cone dystrophy |
| ift88-1 (C. reinhardtii) | Absence of flagellae [52] | ||
| IFT81 | - | - | Syndromic rod-cone dystrophy, non-syndromic cone-rod dystrophy |
| IFT70 (DYF1) | Dyf1/fleer (zebrafish) | Defects in axoneme. kidney cysts, left-right axis asymmetry, PR outer segment defects [53]. | - |
| IFT56 (TTC26/ DYF13) | ttc26 knockdown, morpholino (zebrafish) | Left-right asymmetry, other ciliopathy-related phenotypes. Loss of photoreceptor OS. | - |
| dyf13 mutant in C. reinhardtii | Short flagellae and motility defects [54] | ||
| CLUAP1 (IFT38/FAP22/qilin) | au5 mutant in zebrafish | Curve in body axis, microphthalmia, absence of PR [26]. | LCA |
| Qilinhi3595A(zebrafish) | Body curvature, kidney cysts, missing outer segments of PR [55] | ||
| Cluap1-/- mice | Embryonic lethal; absence of cilia in embryos [25]. | ||
| KIF3A | Kif3aflox/Kif3anull mice | Loss of PR, accumulation of opsin in inner segments [56] | |