TABLE 1.
Phenotypes of JBTS zebrafish morphant (MO) and mutant models.
| JBTS gene | Zebrafish orthologue | Conservation similarity/identity | Model(s) | Larval body curvature | Laterality defects | Hydrocephalus | Pronephric cysts | Otolith defects | Smaller eyes | Retinal dystrophy | CE defects | RNA rescue | Adult scoliosis | References |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AHI1 | ahi1 § | 67 /50 | MO | + | + | + | + | + | + | + | + | + | NA | MO: Simms et al. (2012), Elsayed et al. (2015), Zhu et al. (2019) / mut: Lessieur et al. (2017), Zhu et al. (2019) |
| TALEN iri46, CRISPR | + | NA | - | + | - | +/- | + | - | + | + | ||||
| ARL13B | arl13b § | 75 / 60 | MO | + | + | NA | + | NA | NA | NA | + | + | NA | MO: Sun et al. (2004), Duldulao et al. (2009), Zhu et al. (2020) / mut: Golling et al (2002), Cantagrel et al. (2008), Duldulao et al. (2009), Song et al. (2016), Zhu et al. (2020) |
| ENU hi459 | + | - | NA | + | NA | NA | + | NA | + | NA | ||||
| ARL3 | arl3a | 97 / 95 | ||||||||||||
| arl3b | 98 / 95 | |||||||||||||
| ARMC9 | armc9 § | 72 / 58 | CRISPR zh502, zh503, zh504, zh505 | - | - | NA | + | NA | NA | NA | NA | NA | + | Latour et al. (2020) |
| B9D1 | b9d1 | 94 / 83 | MO | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | Zhao and Malicki (2011) |
| B9D2 | b9d2 | 86 / 76 | MO | + | NA | NA | - | NA | NA | + | NA | + | NA | Dowdle et al. (2011), Zhao and Malicki (2011) |
| C2CD3 | c2cd3 | 58 / 43 | ||||||||||||
| CC2D2A | cc2d2a § | 74 / 58 | ENU w38 * | + | NA | NA | + | NA | - | + | NA | NA | + | Gorden et al. (2008), Owens et al. (2008), Bachmann-Gagescu et al. (2011), Stawicki et al. (2016) |
| CEP41 | cep41 | 72 / 59 | MO | + | + | + | NA | + | + | NA | NA | + | NA | MO: J. E. Lee et al. (2012), Patowary et al. (2019), Ki et al. (2020) / mut: Ki et al. (2020) |
| CRISPR skk1 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | ||||
| CEP104 | cep104 | 68 / 52 | MO | + | + | NA | NA | NA | NA | NA | NA | + | NA | MO and mut: Frikstad et al. (2019) |
| CRISPR F0 | + | + | NA | NA | NA | NA | NA | NA | NA | NA | ||||
| CEP120 | cep120 | 74 / 59 | MO | + | NA | + | + | + | + | NA | NA | + | NA | Shaheen et al. (2015) |
| CEP290 | cep290 § | 77 / 58 | MO | + | + | + | + | + | + | + | NA | + | NA | MO: Sayer et al. (2006), Schäfer et al. (2008), Baye et al. (2011), Murga-Zamalloa et al. (2011), Cardenas-Rodriguez et al. (2021) / mut: Stawicki et al. (2016), Lessieur et al. (2019), Cardenas-Rodriguez et al. (2021) |
| Tilling fh297, TALEN fh378, CRISPR fb208* | + | - | NA | +/- | - | NA | + | NA | NA | + | ||||
| CPLANE1 | - | - | ||||||||||||
| CSPP1 | cspp1a | 57 / 40 | MO | + | NA | + | + | NA | NA | - | NA | NA | NA | Tuz et al. (2014) |
| cspp1b | 49 / 34 | MO | + | NA | + | + | NA | NA | - | NA | NA | NA | Tuz et al. (2014) | |
| FAM149B1 | fam149b1 | 56 / 39 | ||||||||||||
| HYLS1 | - | - | ||||||||||||
| IFT172 | Ift172 § | 88 / 75 | MO | + | NA | + | + | + | NA | + | NA | + | NA | MO: Sun et al. (2004), Lunt et al. (2009), Halbritter et al. (2013), Bujakowska et al. (2015), Bergboer et al. (2018), Eisa-Beygi et al. (2018) / mut: Amsterdam et al. (1999), Sun et al. (2004), Gross et al. (2005), Lunt et al. (2009), Sukumaran and Perkins (2009), Eisa-Beygi et al. (2018) |
| Retroviral insertion hi2211 | + | NA | NA | + | NA | NA | + | NA | NA | NA | ||||
| INPP5E | inpp5e § | 70 / 56 | MO | + | NA | + | + | NA | + | + | NA | + | NA | MO: Luo et al. (2012), Xu et al. (2017) |
| CRISPR | + | NA | NA | + | NA | NA | NA | NA | NA | NA | mut: Xu et al. (2017) | |||
| KIAA0556/KATNIP | katnip | 80 / 69 | MO | + | NA | NA | NA | NA | NA | NA | NA | + | NA | Roosing et al. (2016) |
| KIAA0586/TALPID3 | talpid3 § | 50 / 33 | ZFN i262, i263, i264* | + | + | NA | + | NA | NA | + | NA | NA | NA | Ben et al. (2011), Ojeda Naharros et al. (2018) |
| KIAA0753/OFIP | ofip | 49 / 34 | ENU sa22657 | + | NA | NA | NA | NA | NA | NA | NA | NA | NA | Hammarsjö et al. (2017) |
| KIF7 | kif7 § | 69 / 57 | MO | NA | + | NA | NA | NA | NA | NA | NA | + | NA | MO: Tay et al. (2005), Wilson et al. (2009), Putoux et al. (2011) / mut: Maurya et al. (2013), Lewis et al. (2017), Terhune et al. (2021) |
| ZFN i271, i272*, CRISPR mw406, CRISPR co63 | + | +/- | - | NA | NA | NA | + | NA | + | +/- | ||||
| MKS1 | mks1 | 40 / 26 | MO | NA | NA | NA | NA | NA | NA | NA | + | + | NA | MO: Leitch et al. (2008) |
| CRISPR w152 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | mut: Stawicki et al. (2016) | |||
| NPHP1 | nphp1 | 66 / 46 | MO | + | - | NA | + | NA | NA | NA | + | + | NA | Slanchev et al. (2011), Lindstrand et al. (2014) |
| OFD1 | ofd1 | 60 / 40 | MO | + | + | + | NA | + | NA | NA | + | NA | NA | Ferrante et al. (2009), Lopes et al. (2011) |
| PDE6D | pde6b | 98 / 91 | MO | NA | NA | NA | NA | NA | + | - | NA | + | NA | Thomas et al. (2014) |
| PIBF1 | pibf1 | 82 / 66 | ||||||||||||
| RPGRIP1L | rpgrip1l § | 72 / 54 | MO | + | + | + | NA | NA | NA | NA | + | + | NA | MO: Khanna et al. (2009), Mahuzier et al. (2012) / mut: Vesque et al. (2019) |
| CRISPR F2 | - | - | - | - | NA | NA | - | NA | NA | + | ||||
| SUFU | sufu | 90 / 83 | MO | NA | NA | NA | NA | + | + | NA | NA | NA | NA | Koudijs et al. (2005), Maurya et al. (2013) |
| TCTN1 | tctn1 | 57 / 39 | - | |||||||||||
| TCTN2 | tctn2 | 53 / 38 | MO | NA | + | NA | NA | NA | NA | NA | NA | NA | NA | Liu et al. (2018) |
| TCTN3 | - | - | ||||||||||||
| TMEM67 | tmem67 § | 75 / 59 | MO | + | NA | + | + | + | + | NA | + | + | NA | MO: Adams et al. (2012), Leightner et al. (2013), Lee et al. (2017), Stayner et al. (2017) / mut: Zhu et al. (2021) |
| TALEN e3 | + | NA | - | + | NA | NA | NA | - | NA | + | ||||
| TMEM107 | tmem107 | 76 / 61 | ||||||||||||
| TMEM138 | tmem138 | 80 / 68 | MO | + | + | - | NA | NA | NA | NA | + | NA | NA | Lee J. H. et al. (2012) |
| TMEM216 | tmem216 § | 77 / 58 | MO | + | + | + | NA | NA | NA | NA | + | + | NA | MO: Valente et al. (2010), Lee J. H. et al. (2012) / mut: Liu et al. (2020) |
| CRISPR sny∆175, snyR8∆60 | NA | NA | - | - | NA | NA | + | NA | NA | NA | ||||
| TMEM231 | tmem231 | 78 / 58 | ||||||||||||
| TMEM237 | tmem237a | 68 / 53 | MO | NA | NA | NA | NA | NA | NA | NA | + | + | NA | Huang L. et al. (2011) |
| tmem237b | 68 / 52 | MO | NA | NA | NA | NA | NA | NA | NA | + | + | NA | Huang L. et al. (2011) | |
| TOGARAM1 | togaram1 § | 54 / 38 | CRISPR zh508, zh510 | + | - | NA | + | NA | NA | NA | NA | NA | + | Latour et al. (2020) |
List of bona fide JBTS genes ordered alphabetically (genes with currently limited evidence are not included). Conservation between the zebrafish and the human gene is shown at the amino acid level (similarity / identity). To determine conservation, available sequence information from genome assemblies GRCz11 (zebrafish) and GRCh38.p13 (human) were used, apart for inpp5e, armc9 and togaram1, for which more complete sequence generated in our laboratory was available. §: Genes for which the zebrafish mutant model was described with sufficient information to allow inclusion for the comparisons shown in Figure 5. MO models are always listed first, mutant models second for genes where both are published. The references for each gene are separated according to model type (MO: morphant, mut: mutant).
CE: conversion-extension. The absence or presence of a defect in ciliary morphology in the different organs is shown in Supplementary Table S1. +: phenotype present, -: phenotype absent, NA: not available/not described. *maternal-zygotic mutant available.