splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3

Molecular Genetics of Vestibular Organ Development

“…Splotch mutants have an open neural tube and inner ear defects that include vestibular and auditory components (Deol 1966;Epstein et al 1991;Goulding et al 1991;Rinkwitz et al 2001). Consistent with the phenotype, Pax3, which is mutated in Splotch, is expressed in the dorsal one-third of the neural tube.…”

Pax3 activation promotes the differentiation of mesenchymal stem cells toward the myogenic lineage

“…Pax3 is also present in the brain, dorsally throughout the neural tube and in neural crest cells. Accordingly, Splotch (Pax3-null) mice die by E14.5 due to a number of developmental defects including impaired neural tube closure, defects in neural crest-derived structures, failure of cells within the dermomyotome to delaminate, and therefore, absence of limb muscles [24,35,36]. This later defect is associated with a lack of migratory muscle progenitors, which prevents MyoD activation by Myf5 and Mrf4 [20,28,36,37].…”

Cyclic AMP a Key Messenger in the Regulation of Skin Pigmentation

“…Brachyury-related transcription factor TBX2 has been shown to inhibit TRP1 promoter activity through interaction with melanocyte-specific elements (63). The same elements also bind PAX3, a transcription factor containing an homeodomain and a paired domain, encoded by the Splotch locus (64). In humans, PAX3 has been found mutated in patients with Waardenburg syndrome types 1 and 3 in which pigmentation defects can be observed.…”