Table 1.
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)