| First Author | Zákány J | Year | 1996 |
| Journal | Nature | Volume | 384 |
| Issue | 6604 | Pages | 69-71 |
| PubMed ID | 8900279 | Mgi Jnum | J:36443 |
| Mgi Id | MGI:83869 | Doi | 10.1038/384069a0 |
| Citation | Zakany J, et al. (1996) Synpolydactyly in mice with a targeted deficiency in the HoxD complex. Nature 384(6604):69-71 |
| abstractText | The morphogenesis of mammalian digits requires the function of several genes of the HoxD complex during development of limb buds. Using embryonic stem (ES) cells and a site-specific recombination system (loxP/Cre), we have induced a deficiency that eliminates the products of the Hoxd-13, Hoxd-12 and Hoxd-11 genes simultaneously. A Hoxd-11/lacz reporter gene replaced the deleted region in order to monitor the effect of this triple inactivation at the cellular level. Mice homozygous for this deficiency showed small digit primordia, a disorganized cartilage pattern and impaired skeletal mass. These alterations are similar to the defects seen in a human synpolydactyly, suggesting that this syndrome, which is associated with a subtle mutation in HOXD13 (ref. 8), may involve the loss of function of several Hoxd genes. These results indicate the existence of a functional hierarchy among these genes and provide us with an animal model to study human digit malformations. |
