| Skeletal analysis of the Fgfr3(P244R) mouse, a genetic model for the Muenke craniosynostosis syndrome. | |
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MedLine Citation:
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PMID: 19086028 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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 heterozygotes and many homozygotes. Development of this incompletely penetrant skull phenotype was dependent on genetic background and sex, with males more often affected. However, these cranial abnormalities were rarely attributable to craniosynostosis, which was only present in 2/364 mutants; more commonly, we found fusion of the premaxillary and/or zygomatic sutures. We also found decreased cortical thickness and bone mineral densities in long bones. We conclude that although both cranial and long bone development is variably affected by the murine Fgfr3(P244R) mutation, coronal craniosynostosis is not reliably reproduced. |
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Authors:
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Stephen R F Twigg; Chris Healy; Christian Babbs; Jacqueline A Sharpe; William G Wood; Paul T Sharpe; Gillian M Morriss-Kay; Andrew O M Wilkie |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Developmental dynamics : an official publication of the American Association of Anatomists Volume: 238 ISSN: 1058-8388 ISO Abbreviation: Dev. Dyn. Publication Date: 2009 Feb |
Date Detail:
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Created Date: 2009-02-03 Completed Date: 2009-07-07 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 9201927 Medline TA: Dev Dyn Country: United States |
Other Details:
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Languages: eng Pagination: 331-42 Citation Subset: IM |
Affiliation:
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Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Animals Bone Density Bone and Bones / abnormalities, metabolism Craniosynostoses / genetics, metabolism* Disease Models, Animal* Humans Mice Mice, Transgenic Mutation Receptor, Fibroblast Growth Factor, Type 3 / genetics, metabolism* Skull / abnormalities, metabolism* Syndrome |
| Grant Support | |
ID/Acronym/Agency:
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//Wellcome Trust |
| Chemical | |
Reg. No./Substance:
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EC 2.7.10.1/Receptor, Fibroblast Growth Factor, Type 3 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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