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Article

Skeletal analysis of the Fgfr3(P244R) mouse, a genetic model for the Muenke craniosynostosis syndrome.

Developmental dynamics : an official publication of the American Association of Anatomists - 1 Feb 2009

Twigg Stephen R F, Healy Chris, Babbs Christian, Sharpe Jacqueline A, Wood William G, Sharpe Paul T, Morriss-Kay Gillian M, Wilkie Andrew O M

Abstract excerpt

Muenke syndrome, defined by heterozygosity for a Pro250Arg substitution in fibroblast growth factor receptor 3 (FGFR3), is the most common genetic cause of craniosynostosis in humans. We have used gene targeting to introduce the Muenke syndrome mutation (equivalent to P244R) into the murine Fgfr3 gene. A rounded skull and shortened snout (often skewed) with dental malocclusion was observed in a minority of...

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Source

Identifiers

PMID: 19086028
DOI: 10.1002/dvdy.21790

Genes

FGFR3

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