RGD Reference Report - A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis. - Rat Genome Database

RGD Reference Report - A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis. - Rat Genome Database

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A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis.
Authors:	Donahue, LR Chang, B Mohan, S Miyakoshi, N Wergedal, JE Baylink, DJ Hawes, NL Rosen, CJ Ward-Bailey, P Zheng, QY Bronson, RT Johnson, KR Davisson, MT
Citation:	Donahue LR, etal., J Bone Miner Res 2003 Sep;18(9):1612-21.
RGD ID:	729929
Pubmed:	PMID:12968670 (View Abstract at PubMed)
PMCID:	PMC2862909 (View Article at PubMed Central)
DOI:	DOI:10.1359/jbmr.2003.18.9.1612 (Journal Full-text)
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 offers a useful tool for molecular and biological studies of bone development and pathology. INTRODUCTION: A new mouse autosomal recessive mutation has been discovered and named spondyloepiphyseal dysplasia congenita (gene symbol sedc). MATERIALS AND METHODS: Homozygous sedc mice can be identified at birth by their small size and shortened trunk. Adults have shortened noses, dysplastic vertebrae, femora, and tibias, plus retinoschisis and hearing loss. The mutation was mapped to Chr15, and Col2a1 was identified as a candidate gene. RESULTS: Sequence analyses revealed that the affected gene is Col2a1, which has a missense mutation at exon 48 causing an amino acid change of arginine to cysteine at position 1417. Two human patients with spondyloepiphyseal dysplasia (SED) congenita have been reported with the same amino acid substitution at position 789 in the human COL2A1 gene. CONCLUSIONS: Thus, sedc/sedc mice provide a valuable model of human SED congenita with molecular and phenotypic homology. Further biochemical analyses, molecular modeling, and cell culture studies using sedc/sedc mice could provide insight into mechanisms of skeletal development dependent on Col2a1 and its role in fibril formation and cartilage template organization.

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Object Symbol	Species	Term	Qualifier	Evidence	With	Notes	Source	Original Reference(s)
COL2A1	Human	spondyloepiphyseal dysplasia congenita		ISO	Col2a1 (Mus musculus)	DNA:missense mutation:cds:p.R1417C (mouse)	RGD
Col2a1	Rat	spondyloepiphyseal dysplasia congenita		ISO	Col2a1 (Mus musculus)	DNA:missense mutation:cds:p.R1417C (mouse)	RGD
Col2a1	Mouse	spondyloepiphyseal dysplasia congenita		IAGP		DNA:missense mutation:cds:p.R1417C (mouse)	RGD

Genes (Rattus norvegicus)


Col2a1 (collagen type II alpha 1 chain)

Genes (Mus musculus)


Col2a1 (collagen, type II, alpha 1)

Genes (Homo sapiens)


COL2A1 (collagen type II alpha 1 chain)