title: Craniofacial abnormalities in homozygous Small eye (Sey/Sey) embryos and newborn mice.
abstract: The Small eye (Sey) gene in the mouse is lethal in the homozygous state. It is located on chromosome 2, is a mutation in the Pax-6 gene, and is genetically homologous with the human aniridia 2 (AN2) gene mutation. Numerous studies over the last few years, using genetic and molecular biological approaches, have investigated both the location of the gene as well as its possible mode of action. In the homozygous state, the primary defect appears to be limited to the failure of differentiation of the presumptive lens and nasal placodes. Such mice therefore display a characteristic phenotype; they possess neither eyes nor any nasal derivatives. Their heterozygous (Sey/+) and normal (+/+) littermates may be distinguished before birth only by a detailed examination of their eyes. Few detailed morphological/histological studies have been undertaken to date in the Sey/Sey embryos and newborn, and in the present study we describe a variety of craniofacial abnormalities that have not previously been reported. We observed, with one exception, delayed closure of the palate, and the presence in 80% of mice of an abnormal complement of upper incisor teeth, so that 35% possessed 1 supernumerary tooth while 45% possessed 2 supernumerary teeth. In these mice, a total of either 3 or 4, rather than the normal complement of 2, upper incisor teeth were present. Possibly the most unexpected finding, however, was the presence of a median cartilaginous rod-like structure which protruded between the 2 maxillae to give the Alizarin red S and Alcian blue-stained 'cleared' skulls of the newborn mice a characteristic 'unicorn-like' appearance. While this structure appeared to be a rostral extension of the chondrocranium, its exact derivation is unclear.
authors.affiliation: Department of Anatomy, University Medical School, Edinburgh, UK.
authors.forename: M H
authors.initials: MH
authors.lastname: Kaufman
authors.forename: H H
authors.initials: HH
authors.lastname: Chang
authors.forename: J P
authors.initials: JP
authors.lastname: Shaw
mesh_terms: D000818:Animals; D005124:Eye Abnormalities / Q000235:genetics / Q000473:pathology*; D005147:Facial Bones / Q000002:abnormalities*; D007180:Incisor; D051379:Mice; D008817:Mice, Mutant Strains / Q000033:anatomy & histology* / Q000196:embryology; D010159:Palate / Q000002:abnormalities; D012886:Skull / Q000002:abnormalities*; D014096:Tooth, Supernumerary / Q000235:genetics / Q000473:pathology