GONUTS has been updated to MW1.31 Most things seem to be working but be sure to report problems.

Have any questions? Please email us at ecoliwiki@gmail.com

PMID:11094083

From GONUTS
Jump to: navigation, search
Citation

Pennisi, D, Bowles, J, Nagy, A, Muscat, G and Koopman, P (2000) Mice null for sox18 are viable and display a mild coat defect. Mol. Cell. Biol. 20:9331-6

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(-/-) mice 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.

Links

PubMed PMC102189

Keywords

Alleles; Animals; Blotting, Southern; Cardiovascular System/embryology; Chimera/genetics; Chimera/metabolism; Embryonic and Fetal Development; Gene Targeting; Genes, Reporter; Hair/abnormalities; High Mobility Group Proteins/genetics; High Mobility Group Proteins/physiology; Mice; Mice, Mutant Strains/genetics; Mice, Mutant Strains/metabolism; Mice, Transgenic; Mutagenesis, Insertional; Phenotype; Recombinant Fusion Proteins/genetics; Recombinant Fusion Proteins/metabolism; Reverse Transcriptase Polymerase Chain Reaction; SOXF Transcription Factors; Transcription Factors/genetics; Transcription Factors/physiology

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

MOUSE:SOX18

acts_upstream_of_or_within

GO:0001942: hair follicle development

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:2178809

P

Seeded From UniProt

complete

MOUSE:SOX18

NOT|acts_upstream_of_or_within

GO:0001701: in utero embryonic development

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:2178809

P

Seeded From UniProt

complete

MOUSE:SOX18

NOT|acts_upstream_of_or_within

GO:0007507: heart development

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:2178809

P

Seeded From UniProt

complete


See also

References

See Help:References for how to manage references in GONUTS.