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Article

A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Sept 2003

Donahue Leah Rae, Chang Bo, Mohan Subburaman, Miyakoshi Nao, Wergedal Jon E, Baylink David J, Hawes Norman L, Rosen Clifford J, Ward-Bailey Patricia, Zheng Qing Y, Bronson Roderick T, Johnson Kenneth R, Davisson Muriel T

Abstract excerpt

UNLABELLED: A missense mutation in the mouse Col2a1 gene has been discovered, resulting in a mouse phenotype with similarities to human spondyloepiphyseal dysplasia (SED) congenita. In addition, SED patients have been identified with a similar molecular mutation in human COL2A1. This mouse model...

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Identifiers

PMID: 12968670
DOI: 10.1359/jbmr.2003.18.9.1612
PMCID: PMC2862909

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12968670-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis.PMID 12968670Read ↗

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