Balling R
Institut für Säugetiergenetik, GSF-Forschungszentrum Neuherberg, Germany.
Clin Dysmorphol. 1994 Jul;3(3):185-91.
The mouse is a very useful system for the analysis of vertebral column development, particularly as a model for human skeletal diseases. A large number of mutant mouse strains exist with specific inherited skeletal defects. Undulated (un) is one of these mutants showing abnormalities of the vertebral bodies and intervertebral discs. The gene responsible for un has been identified as the Pax-1 gene, a member of the Pax-gene family. A human disease homologue to un is not known so far. In order to facilitate identification of a potential human PAX-1 disease, an overview is given describing what is currently known about the pathological and molecular analysis of un. It is hoped that this will help medical geneticists and dysmorphologists to identify a potential human disease, which corresponds to a mutation in the PAX-1 gene.
小鼠是用于分析脊柱发育的非常有用的系统，尤其是作为人类骨骼疾病的模型。存在大量具有特定遗传性骨骼缺陷的突变小鼠品系。波状（un）是这些突变体之一，表现出椎体和椎间盘异常。导致un的基因已被鉴定为Pax-1基因，它是Pax基因家族的成员之一。目前尚未发现与un同源的人类疾病。为了便于识别潜在的人类PAX-1疾病，本文给出了一个概述，描述了目前关于un的病理和分子分析的已知情况。希望这将有助于医学遗传学家和畸形学家识别与PAX-1基因突变相对应的潜在人类疾病。
