Dauphinee Shauna M, Eva Megan M, Yuki Kyoko E, Herman Melissa, Vidal Silvia M, Malo Danielle
Department of Human Genetics, McGill University, Montreal, Quebec H3G 0B1, Canada.
G3 (Bethesda). 2013 Oct 3;3(10):1753-8. doi: 10.1534/g3.113.007310.
Using the N-ethyl-N-nitrosourea (ENU) mutagenesis screen, we have identified two skeletal morphology mutants, Skm1 and Skm2. Positional cloning and candidate gene sequencing localized the causative point mutations within the genes coding for natriuretic peptide receptor C (NPR-C) and filamin b (FLNB), respectively. Mice that carry a mutation in Npr3 exhibit a skeletal overgrowth phenotype, resulting in an elongated body and kyphosis. Skm2 mice, carrying a mutation in Flnb, present with scoliosis and lordosis. These mutant mice will serve as useful models for the study of vertebral malformations.
通过N-乙基-N-亚硝基脲（ENU）诱变筛选，我们鉴定出了两个骨骼形态突变体，即Skm1和Skm2。定位克隆和候选基因测序分别将致病点突变定位在编码利钠肽受体C（NPR-C）和细丝蛋白b（FLNB）的基因内。携带Npr3突变的小鼠表现出骨骼过度生长的表型，导致身体拉长和脊柱后凸。携带Flnb突变的Skm2小鼠则表现出脊柱侧凸和脊柱前凸。这些突变小鼠将成为研究椎体畸形的有用模型。
