@article{5c286c12894a4a05aa0bdcd40b0d4c46,
title = "NEMO/IKKγ-deficient mice model incontinentia pigmenti",
abstract = "Disruption of the X-linked gene encoding NF-κB essential modulator (NEMO) produces male embryonic lethality, completely blocks NF-κB activation by proinflammatory cytokines, and interferes with the generation and/or persistence of lymphocytes. Heterozygous female mice develop patchy skin lesions with massive granulocyte infiltration and hyperproliferation and increased apoptosis of keratinocytes. Diseased animals present severe growth retardation and early mortality. Surviving mice recover almost completely, presumably through clearing the skin of NEMO-deficient keratinocytes. Male lethality and strikingly similar skin lesions in heterozygous females are hallmarks of the human genetic disorder incontinentia pigmenti (IP). Together with the recent discovery that mutations in the human NEMO gene cause IP, our results indicate that we have created a mouse model for that disease.",
author = "Marc Schmidt-Supprian and Wilhelm Bloch and Gilles Courtois and Klaus Addicks and Alain Isra{\"e}l and Klaus Rajewsky and Manolis Pasparakis",
note = "Funding Information: We are indebted to Asmae Smahi, Christine Bodemer, and Sylvie Fraitag for histological slides from skin sections of human IP patients and to Chris Galanos for LPS. We are grateful to A. Egert, A. Roth, B. Hampel, C. Bessia, C. Hoffmann, E. Janβen, and J. Siodladczek for technical help and to T. Novobrantseva and W. M{\"u}ller for discussions and critical reading of the manuscript. We thank Exelixis for sequencing. This work was supported by grants from the K{\"o}rber Foundation, the EU (grant QLG1–1999–00202), the Volkswagen Foundation, and the Center for Molecular Medicine Cologne (ZMMK) to K. R. and to A. I. from Ligue Nationale contre le Cancer (Program “{\'e}quipe labellis{\'e}e”) and EC (TMR and Biomed programs). M. P. received a postdoctoral fellowship award from European Molecular Biology Organization.",
year = "2000",
doi = "10.1016/S1097-2765(00)80263-4",
language = "English",
volume = "5",
pages = "981--992",
journal = "Molecular Cell",
issn = "1097-2765",
publisher = "Cell Press",
number = "6",
}
