. Author manuscript; available in PMC: 2011 Jun 23.

Published in final edited form as: Nat Rev Genet. 2010 May;11(5):331–344. doi: 10.1038/nrg2774

Table 1.

Roles of Ciliary and Basal Body Genes in Development and Disease

Mouse Gene	Function	Mutant Phenotype	Primary Cilia Phenotype	Human Disorder
Arl13b	Small GTPase	Hh signaling defects¹²⁹	Abnormal microtubule structure¹²⁹	Joubert syndrome¹⁴³
Bbs1	Basal body protein, Bbsome component	Sensory defects, obesity¹³⁸	Defects in specialized cilia only¹³⁸	Bardet-Biedl syndrome (BBS)¹⁴⁴
Bbs10	Chaperonin-like	ND	ND	BBS¹⁴⁵
Bbs11	E3 ubiquitin ligase	Muscle defects¹⁴⁶	ND	BBS¹⁴⁷, Muscular dystrophy¹⁴⁸
Bbs12	Chaperonin-like	ND	ND	BBS¹⁴⁹
Bbs2	Basal body protein, Bbsome component	Sensory defects, obesity¹⁴⁰	Defects in specialized cilia only¹⁴⁰	BBS¹⁵⁰
Bbs3	Small GTPase	ND	ND	BBS¹⁵¹
Bbs4	Basal body protein, Bbsome component	Sensory defects, male infertility, obesity^{138, 139}	Defects in specialized cilia only^{138, 139}	BBS¹⁵²
Bbs5	Basal body protein, Bbsome component	ND	ND	BBS¹⁵³
Bbs6	Chaperonin-like	Sensory defects, male infertility, obesity	Defects in specialized cilia only	BBS, McKusick-Kaufman syndrome
Bbs7	Basal body protein, Bbsome component	ND	ND	BBS¹⁵⁴
Bbs8	Basal body protein, Bbsome component	ND	ND	BBS¹⁵⁵
Bbs9	Basal body protein, Bbsome component	ND	ND	BBS¹⁵⁶
Dync2h1	Dynein retrograde motor subunit	Reduced Hh signaling^{18, 19}	Bulged¹⁸	Jeune asphyxiating thorasic dystrophy (JATD)¹⁵⁷
Evc	Basal body protein- skeletal specific	Ihh signaling defects¹³⁶	Normal¹³⁶	Ellis-van Creveld syndrome³³
Ftm/Rgrip1	Basal body protein	Reduced Hh signaling³¹	Short³¹	Joubert syndrome type B²⁸ Meckel syndrome¹⁵⁸
Fuz	PCP effector	Hh signaling defects^{103, 104}	Short cilia^{103, 104}	ND
Ift122	IFT Complex A	Increased Hh signaling⁴⁵	Bulged⁴⁵	ND
Ift139	IFT Complex A	Increased Hh signaling¹⁵	Bulged, short¹⁵	ND
Ift172	IFT Complex B	Reduced Hh signaling¹¹	Absent¹¹	ND
Ift52	IFT Complex B	Reduced Hh signaling²¹	ND	ND
Ift57	IFT Complex B	Reduced Hh signaling⁴³	Absent⁴³	ND
Ift80	IFT Complex B	ND	ND	JATD¹⁵⁹
Ift88	IFT Complex B	Reduced Hh signaling¹¹	Absent¹⁶⁰	ND
Inturned	PCP effector	Hh signaling defects¹⁰⁵	Short cilia¹⁰⁵	ND
Kif3a	Kinesin2 subunit-anterograde	Reduced Hh signaling¹¹	Absent¹⁶¹	ND
Kif3b	Kinesin2 subunit	ND	Absent¹⁶²	ND
Kif7	Kinesin-like; Cos2 homolog	Hh signaling defects^{40, 55, 56}	Normal^{40, 55}	ND
Mks1	Basal body protein	Hh defects, skeletal defects, cystic kidneys³²	Sparse, short³²	Meckel syndrome¹⁶³
Ofd1	Basal body protein	Skeletal defects, reduces Hh signaling²⁹	Short²⁹	Oral-facial-digital syndrome³⁰
Stil	Centrosomal protein	Hh signaling defects¹⁶⁴	ND	Primary microcephaly¹⁶⁵

ND, Not determined