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Article

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

Experimental animals - 3 May 2017

Ichimura Satoki, Sasaki Shun, Murata Takuya, Fukumura Ryutaro, Gondo Yoichi, Ikegawa Shiro, Furuichi Tatsuya

Abstract excerpt

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 performed Tgfb1 mutation screening in an ENU-mutagenized mouse genomic DNA library. We identified a missense mutation...

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Identifiers

PMID: 27928112
DOI: 10.1538/expanim.16-0085
PMCID: PMC5411300

Genes

TGFB1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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