An ENU-induced p.C225S missense mutation in the mouse Tgfb1 gene does not cause Camurati-Engelmann disease-like skeletal phenotypes

Camurati-Engelmann disease (CED) is a rare sclerosing bone disorder in humans with autosomal dominant inheritance. Mutations in the gene (TGFB1) that encodes transforming growth factor-β1 (TGF-β1) are causative for CED. TGF-β1 signaling is enhanced by the CED-causing mutations. In this study, we per...

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Detalles Bibliográficos
Autores principales: Ichimura, Satoki, Sasaki, Shun, Murata, Takuya, Fukumura, Ryutaro, Gondo, Yoichi, Ikegawa, Shiro, Furuichi, Tatsuya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Japanese Association for Laboratory Animal Science 2016
Materias:
Original
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5411300/
https://www.ncbi.nlm.nih.gov/pubmed/27928112
http://dx.doi.org/10.1538/expanim.16-0085

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