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

@article{Albrecht2002TheSH,
  title={The synpolydactyly homolog (spdh) mutation in the mouse – a defect in patterning and growth of limb cartilage elements},
  author={Andrea N. Albrecht and Georg C. Schwabe and Sigmar Stricker and Annett Boeddrich and Erich E. Wanker and Stefan Mundlos},
  journal={Mechanisms of Development},
  year={2002},
  volume={112},
  pages={53-67}
}
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… CONTINUE READING
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