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PMID: 8603923 Published · ppublish English Comparative Study Journal Article Research Support, Non-U.S. Gov't

Gene targeting at the mouse cytokeratin 10 locus: severe skin fragility and changes of cytokeratin expression in the epidermis.

The Journal of cell biology ·Vol. 132 ·No. 5 ·1996-03-00 ·Pages 925-36

Porter RM, Leitgeb S, Melton DW, Swensson O, Eady RA, Magin TM

Abstract

Bullous congenital ichthyosiform erythroderma (BCIE) is a dominantly inherited blistering skin disorder caused by point mutations in the suprabasal cytokeratins 1 or 10. Targeting the murine cytokeratin 10 gene in ES cells resulted in mice with different phenotypes in the homozygotes and heterozygotes; both of which exhibit similarities to specific clinical characteristics of BCIE. Homozygotes suffered from severe skin fragility and died shortly after birth. Heterozygotes were apparently unaffected at birth, but developed hyperkeratosis with age. In both genotypes, aggregation of cytokeratin intermediate filaments, changes in cytokeratin expression, and alterations in the program of epidermal differentiation were observed. In addition we demonstrate, for the first time, the existence of the murine equivalent of human cytokeratin 16.

MeSH Terms
Animals Base Sequence Disease Models, Animal Gene Targeting Genes, Lethal Heterozygote Homozygote Hyperkeratosis, Epidermolytic/etiology,genetics,therapy Keratin-10 Keratins/analysis,deficiency,genetics,ultrastructure Mice Mice, Inbred C57BL Mice, Inbred CBA Mice, Knockout Mice, Transgenic Molecular Sequence Data Skin/pathology
Chemicals
KRT10 protein, human Krt10 protein, mouse Keratin-10 Keratins
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Porter R M
Institute of Cell and Molecular Biology, University of Edinburgh.
Leitgeb S
Melton D W
Swensson O
Eady R A
Magin T M
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Article Info
Journal
The Journal of cell biology
Abbr.
J Cell Biol
ISSN
0021-9525
DOI
10.1083/jcb.132.5.925
Published
1996-03-00
Pages
925-36
Language
English
Region
United States
NLM ID
0375356
PMCID
PMC2120736
Subset
IM
Grants
Wellcome Trust · United Kingdom
External Links
PubMed source DOI: 10.1083/jcb.132.5.925 PMC Full Text View journal details
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