LBX1 is a gene located near a single-nucleotide polymorphism, rs11190870, which is highly associated with susceptibility to adolescent idiopathic scoliosis. However, the potential involvement of LBX1 in the etiology of this spinal deformity has not been elucidated. In this study, we aimed to determine whether the lack of LBX1 in skeletal muscle results in spinal deformities in mice. We generated mutant mice in which the Lbx1 allele was conditionally excised under the control of a human muscle actin promoter. Mice lacking LBX1 from the skeletal muscle were fertile and available. The mutant mice had hypoplastic forelimbs and weighed less than control animals, but otherwise, there were no overt anomalies. The mice did not exhibit a scoliosis-like spinal deformity; however, they developed moderate kyphosis as they grew old. These observations indicated that LBX1 is involved in limb development and potentially in the maintenance of spinal curvature/alignment in mice.

中文翻译：

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骨骼肌中 LBX1 的消除导致小鼠肢体发育不全和进行性脊柱后凸

LBX1是位于单核苷酸多态性 rs11190870 附近的基因，它与青少年特发性脊柱侧弯的易感性高度相关。然而，LBX1 在这种脊柱畸形的病因学中的潜在参与尚未阐明。在这项研究中，我们旨在确定骨骼肌中缺乏 LBX1 是否会导致小鼠脊柱畸形。我们生成了突变小鼠，其中Lbx1等位基因在人肌肉肌动蛋白启动子的控制下被有条件地切除。骨骼肌中缺乏 LBX1 的小鼠可生育且可用。突变小鼠的前肢发育不全，体重低于对照动物，但除此之外，没有明显的异常。小鼠没有表现出脊柱侧凸样脊柱畸形；然而，随着年龄的增长，他们出现了中度脊柱后凸。这些观察结果表明 LBX1 参与肢体发育，并可能参与小鼠脊柱弯曲/排列的维持。