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

doi:10.1002/jbmr.547

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Article

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

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Feb 2012

Esapa Christopher T, Hough Tertius A, Testori Sarah, Head Rosie A, Crane Elizabeth A, Chan Carol P S, Evans Holly, Bassett J H Duncan, Tylzanowski Przemko, McNally Eugene G, Carr Andrew J, Boyde Alan, Howell Peter G T, Clark Anne, Williams Graham R, Brown Matthew A, Croucher Peter I, Nesbit M Andrew, Brown Steve D M, Cox Roger D, Cheeseman Michael T, Thakker Rajesh V

Abstract excerpt

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...

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PMID: 22028304
DOI: 10.1002/jbmr.547

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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