Regenerative Medicine and Skeletal Development, Department of Reconstructive Sciences, Biomaterials and Skeletal Development, School of Dental Medicine, University of Connecticut Health, Farmington, CT, 06030, USA.
Department of Orthopaedic Surgery, School of Medicine, University of Connecticut Health, Farmington, CT, 06030, USA.
Curr Osteoporos Rep. 2018 Apr;16(2):77-94. doi: 10.1007/s11914-018-0421-4.
The international mouse phenotyping consortium (IMPC) is producing defined gene knockout mouse lines. Here, a phenotyping program is presented that is based on micro-computed tomography (μCT) assessment of distal femur and vertebra. Lines with significant variation undergo a computer-based bone histomorphometric analysis.
Of the 220 lines examined to date, approximately 15% have a significant variation (high or low) by μCT, most of which are not identified by the IMPC screen. Significant dimorphism between the sexes and bone compartments adds to the complexity of the skeletal findings. The μCT information that is posted at www.bonebase.org can group KOMP lines with similar morphological features. The histological data is presented in a graphic form that associates the cellular features with a specific anatomic group. The web portal presents a bone-centric view appropriate for the skeletal biologist/clinician to organize and understand the large number of genes that can influence skeletal health. Cataloging the relative severity of each variant is the first step towards compiling the dataset necessary to appreciate the full polygenic basis of degenerative bone disease.
国际小鼠表型联盟（IMPC）正在制作特定基因敲除的小鼠品系。这里提出了一个基于微计算机断层扫描（μCT）评估股骨远端和椎骨的表型分析方案。具有显著差异的品系将进行基于计算机的骨组织形态计量学分析。
迄今为止，在检查的 220 条线中，约有 15%的 μCT 存在显著差异（高或低），其中大多数在 IMPC 筛选中未被识别。性别和骨腔之间的显著二态性增加了骨骼发现的复杂性。在 www.bonebase.org 上发布的 μCT 信息可以将 KOMP 线按照相似的形态特征进行分组。组织学数据以图形形式呈现，将细胞特征与特定的解剖组相关联。该网络门户提供了一个以骨骼为中心的视图，适合骨骼生物学家/临床医生组织和理解大量可能影响骨骼健康的基因。对每个变体的相对严重程度进行编目是朝着汇编数据集迈出的第一步，这些数据集对于理解退行性骨疾病的全多基因基础是必要的。
