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

Abstract:

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 ph...

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Publication status:
Published

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Publisher copy:
10.1002/dvdy.21790

Authors


Sharpe, JA More by this author
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Journal:
Developmental dynamics : an official publication of the American Association of Anatomists
Volume:
238
Issue:
2
Pages:
331-342
Publication date:
2009-02-05
DOI:
EISSN:
1097-0177
ISSN:
1058-8388
URN:
uuid:7fea6370-49cf-4a64-98de-afcb294a4db4
Source identifiers:
119612
Local pid:
pubs:119612

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