Skip to main content
. Author manuscript; available in PMC: 2016 Jun 20.
Published in final edited form as: Development. 2008 Sep;135(17):2905–2916. doi: 10.1242/dev.019778

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.

HHS Vulnerability Disclosure