Mice null for Sox18 are viable and display a mild coat defect

Pennisi, D., Bowles, J, Nagy, A., Muscat, G. and Koopman, P. (2000) Mice null for Sox18 are viable and display a mild coat defect. Molecular and Cell Biology, 20 24: 9331-9336. doi:10.1128/MCB.20.24.9331-9336.2000

Attached Files (Some files may be inaccessible until you login with your UQ eSpace credentials)
Name Description MIMEType Size Downloads
UQ141911_OA.pdf Full text (open access) application/pdf 2.44MB 0

Author Pennisi, D.
Bowles, J
Nagy, A.
Muscat, G.
Koopman, P.
Title Mice null for Sox18 are viable and display a mild coat defect
Journal name Molecular and Cell Biology   Check publisher's open access policy
ISSN 0270-7306
Publication date 2000
Sub-type Article (original research)
DOI 10.1128/MCB.20.24.9331-9336.2000
Open Access Status File (Publisher version)
Volume 20
Issue 24
Start page 9331
End page 9336
Total pages 6
Place of publication Washington, DC, United States
Publisher American Society for Microbiology
Collection year 2000
Language eng
Abstract We have previously shown that Sox18 is expressed in developing vascular endothelium and hair follicles during mouse embryogenesis and that point mutations in Sox18 are the underlying cause of cardiovascular and hair follicle defects in ragged (Ra) mice. Here we describe the analysis of Sox18(-/-) mice produced by gene targeting. Despite the profound defects seen in Ra mice, Sox18(-/-) mice have no obvious cardiovascular defects and only a mild coat defect with a reduced proportion of zigzag hairs. A reduction in the amount of pheomelanin pigmentation in hair shafts was also observed; later-forming hair follicles showed a reduced subapical pheomelanin band, giving Sox18(-/-) mice a slightly darker appearance than Sox18(+/+) and Sox18(+/-) siblings. Sox18(-/-) mire are viable and fertile and show no difference in the ability to thrive relative to littermates. Because of the mild effect of the mutation on the phenotype of Sox18(-/-) mice, we conclude that the semidominant nature of the Ra mutations is due to a trans-dominant negative effect mediated by the mutant SOX18 proteins rather than haploinsufficiency as has been observed for other SOX genes. Due to the similarity of SOX18 to other subgroup F SOX proteins, SOX7 and -17, and the overlap in expression of these genes, functional redundancy amongst these SOX proteins could also account for the mild phenotype of Sox18(-/-) mice.
Keyword Biochemistry & Molecular Biology
Cell Biology
Autosomal Sex Reversal
Embryonic Stem-cells
Sry-related Gene
Campomelic Dysplasia
Q-Index Code C1
Additional Notes PMID :11094083 indexed for Medline

Document type: Journal Article
Sub-type: Article (original research)
Collection: Institute for Molecular Bioscience - Publications
Version Filter Type
Citation counts: TR Web of Science Citation Count  Cited 79 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 82 times in Scopus Article | Citations
Google Scholar Search Google Scholar
Created: Tue, 10 Jun 2008, 12:57:01 EST