The scoliosis (sco) mouse: a new allele of Pax1

Item Type:	Article
Title:	The scoliosis (sco) mouse: a new allele of Pax1
Creators Name:	Adham, I.M. and Gille, M. and Gamel, A.J. and Reis, A. and Dressel, R. and Steding, G. and Brand-Saberi, B. and Engel, W.
Abstract:	We describe the spontaneous mutant mouse scoliosis (sco) that carries a new allele of Pax1 (un-i, undulated intermediate). The Pax1un-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 (Thy1) could be found.
Keywords:	Animal Disease Models, Chromosome Mapping, Exons, Homozygote, Humerus, Mutation, Paired Box Transcription Factors, Scoliosis, Thy-1 Antigens, T-Lymphocytes, Animals, Mice
Source:	Cytogenetic and Genome Research
ISSN:	1424-8581
Publisher:	Karger
Volume:	111
Number:	1
Page Range:	16-26
Date:	1 January 2005
Official Publication:	https://doi.org/10.1159/000085665
PubMed:	View item in PubMed

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