A mutation of the Col2a1 gene (G1170S) alters the transgenic murine phenotype and cartilage matrix homeostasis

Ruei Cheng Yang, Ming Hong Chen, Pei Yu Chen, Ching Yun Chen, Shih Feng Tsai, Cheng Kung Cheng, Jui Sheng Sun

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


Background/Purpose: Genomic studies have revealed that there is a significant association between a point mutation of the human Col2A1 gene (G1170S) and several hip disorders. The purpose of the study was to explore the phenotype and altered cartilage matrix homeostasis of transgenic mice carrying this mutated Col2a1 gene. Methods: Wild-type and transgenic mice were used as the control and study groups, respectively. Body weight measurement, radiographic analysis, and histological analysis of the mice were carried out to describe differences between the wild-type and transgenic mice at different ages. Cartilage metabolism studies were also carried out, including an MTT assay of cellular proliferation and nitric oxide and glycosaminoglycan assays. Allelic expression levels of the mutant A allele and the normal G allele were established by TaqMan assay. Cytokine and protease gene expression were measured. Results: Transgenic mice had a lower mean body weight, a deformed skeletal structure, and abnormal cartilage histomorphology. Chondrocyte proliferation was significantly compromised and this was linked to significantly higher NO secretion and less soluble glycosaminoglycan formation. TNF-α and IL-1β gene expression was significantly upregulated, while MMP-13 gene expression was significantly downregulated. Conclusion: The mutant G1170S Col2a1 gene in mice clearly alters the transgenic murine phenotype and cartilage matrix homeostasis.

Original languageEnglish
Pages (from-to)803-812
Number of pages10
JournalJournal of the Formosan Medical Association
Issue number11
StatePublished - 1 Nov 2014


  • Cartilage
  • Col2a1
  • Homeostasis
  • Phenotype
  • Transgenic mice


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