Table 1.

Causative Loci in Multiple Ciliopathies and their zebrafish orthologs

Causative Loci in Humans	Zebrafish Ortholog	Phenotype	References
Polycystic Kidney Disease (PKD)
Pkd1 (Polycystin-1)	pkd1a/pkd1b	Dorsal axis curvature, pronephric kidney cysts, hydrocephalus, jaw defects	(Mangos et al. 2010)
Pkd2 (Polycystin-2)	pkd2/curly up	Dorsal axis curvature, pronephric kidney cysts, pericardial edema, hydrocephalus, laterality defects	(Bisgrove et al. 2005; Obara et al. 2006; Schottenfeld et al. 2007; Fu et al. 2008; Sullivan-Brown et al. 2008)
Nephronopthisis (NPHP)
NPHP1	N.D.
NPHP2/inversin	inversin	Ventral axis curvature, pronephric kidney cysts, pericardial edema, laterality defects	(Otto et al. 2003; Simons et al. 2005)
NPHP3	nphp3	Ventral axis curvature, pronephric kidney cysts, hydrocephalus, laterality defects, CE defects, fewer and shorter cilia in KV	(Zhou et al. 2010)
NPHP4	N.D.
NPHP5	nphp5/iqcb1	Axis curvature, pronephric kidney cysts, hydrocephalus	(Schafer et al. 2008)
NPHP6/CEP290	cep290	Ventral axis curvature, pronephric kidney cysts, hydrocephalus, CE defects, deficient retinal tissue	(Sayer et al. 2006; Leitch et al. 2008; Schafer et al. 2008)
NPHP7/GLIS2	N.D.
NPHP8/RPGRIP1L	rpgrip1l	Dorsal axis curvature, CE defects	(Khanna et al. 2009)
NPHP9/NEK8	nek8	Kidney cysts	(Liu et al. 2002)
NPHP11/MKS3	mks3	CE defects	(Leitch et al. 2008)
Joubert Syndrome (JBTS)
JBTS1/INPP5E	inpp5e	N.D.
JBTS2/TMEM216	tmem216	Ventral axis curvature, pericardial edema, hydrocephaly, CE defects	(Valente et al. 2010)
JBTS3/AHI1	ahi1	N.D.
JBTS4/NPHP1	See NPHP1
JBTS5/CEP290	See NPHP6
JBTS6/TMEM67/MKS3	tmem67	CE defects	(Leitch et al. 2008; Valente et al. 2010)
JBTS7/RPGRIP1L	See NPHP8
JBTS8/ARL13B	arl13b/scorpion	Ventral axis curvature; pronephric kidney cysts; laterality defects, CE defects, reduced number of cilia in pronephros and KV	(Sun et al. 2004; Cantagrel et al. 2008; Duldulao et al. 2009)
JBTS9/CC2D2A	cc2d2a/sentinal	Dorsal axis curvature, pronephric kidney cysts	(Gorden et al. 2008)
JBTS10/OFD1	ofd1	Axis curvature, pericardial edema, hydrocephalus, laterality defects, CE defects	(Ferrante et al. 2009)
Bardet-Biedl Syndrome (BBS)
BBS1	bbs1	CE defects, KV defects, delay in melasome transport, expansion of Shh expression in fin bud	(Gerdes et al. 2007; Tayeh et al. 2008; Zaghloul et al. 2010)
BBS2	bbs2	KV defect, degenerate cila in KV, delay in melanosome transport	(Yen et al. 2006)
BBS3	arl6/bbs3	KV defects, laterality defects, delay in melanosome transport	(Tayeh et al. 2008)
BBS4	bbs4	CE defects, KV defect, degenerate cilia in KV, laterality defects, delay in melanosome transport	(Yen et al. 2006; Gerdes et al. 2007; Zaghloul et al. 2010)
BBS5	bbs5	KV defects, laterality defects, delay in melanosome transport	(Yen et al. 2006)
BBS6/MKKS	mkks/bbs6	Pronephric kidney cysts, CE defects, KV defect, degenerate cilia in KV, laterality defects, delay in melanosome transport	(Yen et al. 2006; Gerdes et al. 2007; Zaghloul et al. 2010)
BBS7	bbs7	KV defect, degenerate cila in KV, laterality defects, delay in melanosome transport, expansion of Shh expression in fin bud	(Yen et al. 2006; Tayeh et al. 2008)
BBS8	ttc8/bbs8	Ventral axis curvature, pronephric kidney cysts, KV defect; laterality defects, delay in melanosome transport	(Yen et al. 2006; Tobin and Beales 2008)
BBS9	bbs9	CE defects	(Zaghloul et al. 2010)
BBS10	bbs10	CE defects	(Zaghloul et al. 2010)
BBS11	trim32/bbs11	KV defect, delay in melanosome transport	(Chiang et al. 2006)
BBS12	bbs12	CE defects	(Stoetzel et al. 2007; Zaghloul et al. 2010)
BBS13/MKS1	mks1	Ventral axis curvature, pronephric kidney cysts, CE defects	(Leitch et al. 2008; Tobin and Beales 2008)
BBS14/CEP290	See NPHP6

Abbreviations: N.D. (Not Determined); CE (convergent extension); KV (Kupffer’s Vesicle)