| First Author | Bosen F | Year | 2014 |
| Journal | FEBS Lett | Volume | 588 |
| Issue | 9 | Pages | 1795-801 |
| PubMed ID | 24685692 | Mgi Jnum | J:208123 |
| Mgi Id | MGI:5561145 | Doi | 10.1016/j.febslet.2014.03.040 |
| Citation | Bosen F, et al. (2014) The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice. FEBS Lett 588(9):1795-1801 |
| abstractText | Distinct mutations in the gap junction protein connexin30 (Cx30) can cause the ectodermal dysplasia Clouston syndrome in humans. We have generated a new mouse line expressing the Clouston syndrome mutation Cx30A88V under the control of the endogenous Cx30 promoter. Our results show that the mutated Cx30A88V protein is incorporated in gap junctional plaques of the epidermis. Homozygous Cx30A88V mice reveal hyperproliferative and enlarged sebaceous glands as well as a mild palmoplantar hyperkeratosis. Additionally, homozygous mutant mice show an altered hearing profile compared to control mice. We conclude that the Cx30A88V mutation triggers hyperproliferation in the skin and changes the cochlear homeostasis in mice. |
