Adham I M, Gille M, Gamel A J, Reis A, Dressel R, Steding G, Brand-Saberi B, Engel W
Institute of Human Genetics, University of Göttingen, Göttingen, Germany.
Cytogenet Genome Res. 2005;111(1):16-26. doi: 10.1159/000085665.
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.
我们描述了携带Pax1新等位基因（un-i，波浪状中间型）的自发突变小鼠脊柱侧凸（sco）。Pax1(un-i)等位基因缺失5'侧翼区域以及外显子1至4，其定位于Pax1基因的nt -2636至-640以及-272至4271处。纯合小鼠表现出其他Pax1突变体已知表型的轻度形式。成年小鼠有腰椎脊柱侧凸和卷曲的尾巴。在纯合胚胎中，骨骼早期骨化，椎体的骨化中心与椎弓根的骨化中心融合。神经弓和棘突发育不全，但椎弓根和横突过度发育，这与其他Pax1突变体不同。在肩胛骨中，肩峰缺失，肱骨近端的三角肌粗隆缩短并增厚。在内脏器官中，胸腺发育受到影响。在晚期胚胎中，胸腺较小，胸腺细胞数量减少。从CD4和CD8双阴性（DN）到CD4 +和CD8 +双阳性（DP）的T细胞发育减速。CD90 +细胞的百分比也降低，但与其他Pax1突变体不同，未发现CD90（Thy-1）表达水平的改变。
