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The Lpk phenotype was inherited as an autosomal dominant trait. Lpk\/+ mice were viable and fertile and Lpk\/Lpk mice died perinatally. Lpk was mapped to chromosome 15 and mutational analysis of likely candidates from the interval revealed a Col2a1 missense Ser1386Pro mutation. Transient transfection of wild-type and Ser1386Pro mutant Col2a1 c-Myc constructs in COS-7\u2009cells and CH8 chondrocytes demonstrated abnormal processing and endoplasmic reticulum retention of the mutant protein. Histology revealed growth plate disorganization in 14-day-old Lpk\/+ mice and embryonic cartilage from Lpk\/+ and Lpk\/Lpk mice had reduced safranin-O and type-II collagen staining in the extracellular matrix. The wild-type and Lpk\/+ embryos had vertical columns of proliferating chondrocytes, whereas those in Lpk\/Lpk mice were perpendicular to the direction of bone growth. Electron microscopy of cartilage from 18.5 dpc wild-type, Lpk\/+, and Lpk\/Lpk embryos revealed fewer and less elaborate collagen fibrils in the mutants, with enlarged vacuoles in the endoplasmic reticulum that contained amorphous inclusions. Micro-computed tomography (CT) scans of 12-week-old Lpk\/+ mice revealed them to have decreased bone mineral density, and total bone volume, with erosions and osteophytes at the joints. Thus, an ENU mouse model with a Ser1386Pro mutation of the Col2a1 C-propeptide domain that results in abnormal collagen processing and phenotypic features consistent with SEDC and secondary osteoarthritis has been established. \u00a9 2012 American Society for Bone and Mineral Research<\/jats:p>","DOI":"10.1002\/jbmr.547","type":"journal-article","created":{"date-parts":[[2011,10,25]],"date-time":"2011-10-25T16:05:54Z","timestamp":1319558754000},"page":"413-428","source":"Crossref","is-referenced-by-count":32,"title":["A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to a<i>Col2a1<\/i>mutation"],"prefix":"10.1093","volume":"27","author":[{"given":"Christopher T","family":"Esapa","sequence":"first","affiliation":[{"name":"MRC Mammalian Genetics Unit and Mary Lyon Centre, MRC Harwell, Harwell Science and Innovation Campus, United Kingdom"},{"name":"Academic Endocrine Unit, Nuffield Department of Clinical Medicine, Oxford Centre for Diabetes, 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