title: The scoliosis (sco) mouse: a new allele of Pax1.
abstract: We describe the spontaneous mutant mouse scoliosis (sco) that carries a new allele of Pax1 (un-i, undulated intermediate). The Pax1(un-i) allele is lacking the 5'-flanking region and exon 1 to 4 which is mapped to nt -2636 to -640 and -272 to 4271 of the Pax1 gene. Homozygous mice show a mild form of the known phenotypes of other Pax1 mutants. Adult mice have a lumbar scoliosis and kinky tails. In homozygous embryos the skeleton ossifies early, ossification centers of the vertebral bodies are fused with the ossification centers of the pedicles. Neural arches and spinous processes are underdeveloped but the pedicles and transverse processes are overdeveloped which is in contrast to other Pax1 mutants. In the scapula, the acromion is missing and the deltoid tuberosity of the proximal humerus is shortened and thickened. Among the inner organs the thymus development is affected. In late embryos, the thymus is small and thymocyte numbers are reduced. T-cell development from CD4- and CD8- double negative (DN) to CD4+ and CD8+ double positive (DP) is decelerated. The percentage of CD90+ cells is also reduced but in contrast to other Pax1 mutants no alteration of the expression level of the CD90 (Thy-1) could be found.
authors.affiliation: Institute of Human Genetics, University of Göttingen, Göttingen, Germany.
authors.forename: I M
authors.initials: IM
authors.lastname: Adham
authors.forename: M
authors.initials: M
authors.lastname: Gille
authors.forename: A J
authors.initials: AJ
authors.lastname: Gamel
authors.forename: A
authors.initials: A
authors.lastname: Reis
authors.forename: R
authors.initials: R
authors.lastname: Dressel
authors.forename: G
authors.initials: G
authors.lastname: Steding
authors.forename: B
authors.initials: B
authors.lastname: Brand-Saberi
authors.forename: W
authors.initials: W
authors.lastname: Engel
mesh_terms: D000818:Animals; D002874:Chromosome Mapping; D004195:Disease Models, Animal; D005091:Exons; D006720:Homozygote; D006811:Humerus / Q000002:abnormalities; D051379:Mice; D009154:Mutation; D051761:Paired Box Transcription Factors / Q000235:genetics*; D012600:Scoliosis / Q000235:genetics* / Q000276:immunology; D013601:T-Lymphocytes / Q000276:immunology; D018800:Thy-1 Antigens / Q000235:genetics
chemical_list: D051761:Paired Box Transcription Factors; D018800:Thy-1 Antigens; C070835:PAX1 transcription factor