Table 1.

Animal models for craniofacial ciliopathies

Model system	Mutant/morphant name	Gene	Craniofacial phenotype	References
Mouse	Aln	Ttc21b (Ift39)	Delayed eye and forebrain development; neural tube defects	Tran et al. (2008)
	Bbs4−/−	Bbs4	Mid-facial shortening due to premaxillary and maxillary hypoplasia; shortened snouts	Tobin et al. (2008)
	Bbs6−/−	Bbs6	Mid-facial shortening due to premaxillary and maxillary hypoplasia; shortened snouts	Tobin et al. (2008)
	Dync2h1b2b414Clo	Dync2h1	Micrognathia	Cecilia Lo to MGI
	Evc−/−	Evc	Chondroplasia, hypodontia	Ruiz-Perez et al. (2007)
	Fuz−/−	Fuz	Exencephaly; anophthalmia; encephalocoele; mandibular defects; micrognathia; high arched palate; enlarged maxillary processes	Tabler et al. (2013) and Gray et al. (2009)
	Hippi−/−	Ift57	Exencephaly; abnormal cranial flexure; hypertelorism; abnormal maxillary processes; small arches	Houde et al. (2006)
	Ift52hypo	Ift52	Single median nostril; fused maxillary prominences; exencephaly	Liu, Wang, and Niswander (2005)
	Ift122−/−	Ift122	Exencephaly; anencephaly; altered eye and branchial arch development; defects of the ventral portion of the head	Cortellino et al. (2009)
	Ift172avc1	Ift172	Hydrocephalus; abnormal facies; shortened muzzle; cleft lip and palate	Friedland-Little et al. (2011)
	Kif3af/f;Wnt1-Cre	Kif3a in cranial NCCs	Anterior cranium occultum; bifid nasal septum; aglossia; severe hypertelorism; dental abnormalities	Brugmann et al. (2010)
	Kipf7−/−	Kif7	Cleft lip and palate	Cecilia Lo to MGI
	Mks−/−	Mks1	Occipital meningoencephalocele; hypomineralization and/or splitting of the frontal, parietal, and superaoccipital bones; hydrocephaly; cleft palate; pointy snout	Weatherbee et al. (2009)
	Ofd1−/−	Ofd1	Severe cleft palate; shortened skull and facial regions	Ferrante et al. (2006)
	Orpk	Ift88	Dental abnormalities; micrognathia; increased gonial angle; poorly differentiated branchial arches; minor clefting; disorganized/patent frontal sutures	Zhang et al. (2003), Murcia et al., (2000), and Ohazama et al. (2009)
	Rpgrip1l−/−	Rpgrip1l/Ftm	Exencephaly, microphthalmia; rounded skull; cleft upper lip; micrognathia	Delous et al. (2007)
	Tmem67−/−	Tmem67	Hypoplastic mandible, semilobar HPE, occipital meningocele, midbrain and/or forebrain exencephaly	Abdelhamed et al. (2013)
Chicken	talpid2	c2cd3	Short, wide upper beak; cleft lip/palate; hypo- or aglossia	Chang et al. (2014)
	talpid3	talpid3	Ocular hypotelorism; frontonasal hypoplasia; fused maxillary prominences; micrognathia	Yin et al. (2009)
Zebrafish	Bbs morphants	bbs4, bbs6, bbs8	Mandibular dysplasia; severe craniofacial reduction; anteroneurocranium hypoplasia	Tobin et al. (2008)
	Ift mutants	ift57, ift88, ift172	Mild dysmorphology of craniofacial cartilages	Lunt et al. (2009)
	Ift80 morphant	ift80	Abnormal anterior neurocranial development; midline fusion	Beales et al. (2007)
	Ift122 morphant	ift122	Reduced ocular development; distended cranium with hydrocephalus; otolith defects	Walczak-Sztulpa et al. (2010)
	Ofd1 morphant	ofd1	Abnormal blunting of the jaw; disorganization of Meckel’s cartilage cells	Ferrante et al. (2009)

Ciliopathic models are grouped according to model system.