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A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to a Col2a1 mutation.

Abstract:

Progeny of mice treated with the mutagen N-ethyl-N-nitrosourea (ENU) revealed a mouse, designated Longpockets (Lpk), with short humeri, abnormal vertebrae, and disorganized growth plates, features consistent with spondyloepiphyseal dysplasia congenita (SEDC). 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...

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Publisher copy:
10.1002/jbmr.547

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Journal:
J Bone Miner Res
Volume:
27
Issue:
2
Pages:
413-428
Place of publication:
United States
Publication date:
2012-02-01
DOI:
EISSN:
1523-4681
ISSN:
0884-0431
Source identifiers:
193461

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