Table 1.
Mouse mutant phenotypes for the genes downstream of Dlx5/6
Gene | Mouse mutant phenotype | References |
---|---|---|
Those with known craniofacial defects† | ||
| ||
Alx3, Alx4* | Cleft nose, distal truncation and midline fusion of the dentary, hypoplastic skull vault | (Beverdam et al., 2001) |
Gsc* | Malformed nose and ear, hypoplastic dentary and malleus, absence of ectotympanic, abnormal tongue musculature | (Rivera-Perez et al., 1995; Yamada et al., 1995) |
Hand1, Hand2* | Reduced mandible, ectotympanic and gonial, cleft palate. Distal truncation and midline fusion of the dentary, fusion of the lower incisors | (Yanagisawa et al., 2003; Barbosa et al., 2007) |
Pitx1* | Reduced mandible, bifurcate tongue, cleft palate, reduced ectotympanic and missing gonial | (Lanctot et al., 1999) |
Gbx2 | Hypoplastic otic capsule and middle ear ossicles. Reduced mandible (Gbx2−/−;Fgf8+/−) | (Byrd and Meyers, 2005) |
Dlx3* | Hypoplasia of proximal dentary, dysmorphic incus and Meckel’s cartilage, truncated ectotympanic (Dlx3+/−;Dlx5−/−) | (Depew et al., 2005) |
Hgf | Impaired ingression of muscle precursors and motor axons into the tongue | (Bladt et al., 1995; Dietrich et al., 1999; Caton et al., 2000) |
Bmper | Reduced or missing laryngeal cartilages, hypoplastic skull vault, a cavity in basisphenoid, reduced squamosal bone | (Ikeya et al., 2006) |
Foxl2 | Eye lid malformation | (Crisponi et al., 2001; Uda et al., 2004) |
Pou3f3 | Loss of jugal and most of squamosal bone, fusion of stapes and styloid process | This study |
| ||
Those without known craniofacial defects | ||
| ||
Cited1 | Placenta defects and embryonic growth restriction, neonatal lethality | (Rodriguez et al., 2004) |
Zac1 | Embryonic growth restriction, reduced ossification in vertebrae and limb, neonatal lethality | (Varrault et al., 2006) |
Unc5c | Abnormal neuronal migration in cerebellum | (Ackerman et al., 1997) |
Irx5 | Defects in retina development and cardiac function | (Cheng et al., 2005; Costantini et al., 2005) |
Cyp26a1 | Posterior axis truncation, spina bifida, internal organ defects, abnormalities in vertebrae and hindbrain, mid-late gestation lethality | (Abu-Abed et al., 2001) |
Genes identified to be downstream of Dlx5/6 in previous studies (Depew et al., 1999; Depew et al., 2002b).
Only craniofacial phenotypes are listed for these genes.