Document Detail


Skeletal analysis of the Fgfr3(P244R) mouse, a genetic model for the Muenke craniosynostosis syndrome.
MedLine Citation:
PMID:  19086028     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
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:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
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:
Created Date:  2009-02-03     Completed Date:  2009-07-07     Revised Date:  2014-02-19    
Medline Journal Info:
Nlm Unique ID:  9201927     Medline TA:  Dev Dyn     Country:  United States    
Other Details:
Languages:  eng     Pagination:  331-42     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
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:
MC_U137961145//Medical Research Council; //Wellcome Trust
Chemical
Reg. No./Substance:
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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