期刊
DEVELOPMENT
卷 148, 期 18, 页码 -出版社
COMPANY BIOLOGISTS LTD
DOI: 10.1242/dev.188631
关键词
Craniofacial; Cranium; Down syndrome; Morphometrics; Mouse model; Phenotyping
资金
- Wellcome Trust [080174, 098327, 098328, FC001194, 102431]
- Francis Crick Institute - Cancer Research UK [FC001194]
- UK Medical Research Council [FC001194]
- Francis Crick Institute
- King's College London
- Wellcome Trust/Engineering and Physical Sciences Research Council Centre for Medical Engineering [WT 203148/Z/16/Z]
- Canadian Institutes of Health Research Foundation
- National Institutes of Health [R01 R01DE019638]
- Canada Foundation for Innovation
- ACHRI Postdoctoral Fellowship
- Eyes High Postdoctoral Fellowship (University of Calgary)
The study utilized a landmark-free method to characterize the craniofacial skeletal phenotype of two mouse models and found dysmorphologies in one model and variation attributed to size and sexual dimorphism in another. The landmark-free method outperformed the landmark-based method in pinpointing local differences and structural reductions, making it suitable for wider application, especially in developmental mutant phenotype characterization.
Characterising phenotypes often requires quantification of anatomical shape. Quantitative shape comparison (morphometrics) traditionally uses manually located landmarks and is limited by landmark number and operator accuracy. Here, we apply a landmark-free method to characterise the craniofacial skeletal phenotype of the Dp1Tyb mouse model of Down syndrome and a population of the Diversity Outbred (DO) mouse model, comparing it with a landmark-based approach. We identified cranial dysmorphologies in Dp1Tyb mice, especially smaller size and brachycephaly (front-back shortening), homologous to the human phenotype. Shape variation in the DO mice was partly attributable to allometry (size-dependent shape variation) and sexual dimorphism. The landmark-free method performed as well as, or better than, the landmark-based method but was less labour-intensive, required less user training and, uniquely, enabled fine mapping of local differences as planar expansion or shrinkage. Its higher resolution pinpointed reductions in interior midsnout structures and occipital bones in both the models that were not otherwise apparent. We propose that this landmark-free pipeline could make morphometrics widely accessible beyond its traditional niches in zoology and palaeontology, especially in characterising developmental mutant phenotypes.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据