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  The synpolydactyly homolog (spdh) mutation in the mouse – a defect in patterning and growth of limb cartilage eleme

Albrecht, A. N., Schwabe, G. C., Stricker, S., Böddrich, A., Wanker, E. E., & Mundlos, S. (2002). The synpolydactyly homolog (spdh) mutation in the mouse – a defect in patterning and growth of limb cartilage eleme. Mechanisms of Development, 112(1-2), 53-67.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8C6E-6 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8C6F-4
Genre: Journal Article

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 Creators:
Albrecht, Andrea N.1, Author              
Schwabe, Georg C.1, Author              
Stricker, Sigmar1, Author              
Böddrich, Annett2, Author              
Wanker, Erich E.3, Author
Mundlos, Stefan1, Author              
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              
2Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433550              
3Max Planck Society, ou_persistent13              

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Free keywords: Hox-genes; Limb development; Synpolydactyly; Joint development; Chondrocyte differentiation; Proliferation; Gdf5; Ihh
 Abstract: We have investigated the recessive mouse mutant synpolydactyly homolog (spdh) as a model for human synpolydactyly (SPD). As in human SPD, the spdh phenotype consists of central polydactyly, syndactyly and brachydactyly and is caused by the expansion of a polyalanine encoding repeat in the 5' region of the Hoxd13 gene. We performed a detailed phenotypic and functional analysis of spdh/spdh embryos using skeletal preparations, histology, in situ hybridization, BrdU labeling of proliferating cells, and in vitro expression studies. The absence of normal phalangeal joints and the misexpression of genes involved in joint formation demonstrate a role for Hox-genes in joint patterning. The spdh mutation results in abnormal limb pattering, defective chondrocyte differentiation, and in a drastic reduction in proliferation. Abnormal chondrocyte differentiation and proliferation persisted after birth and correlated with the expression of the mutant Hoxd13 and other Hox-genes during late-embryonic and postnatal growth.

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Language(s): eng - English
 Dates: 2002-01-18
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: eDoc: 24413
 Degree: -

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Title: Mechanisms of Development
Source Genre: Journal
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Pages: - Volume / Issue: 112 (1-2) Sequence Number: - Start / End Page: 53 - 67 Identifier: -