PMID:15254231

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Citation

Sock, E, Rettig, SD, Enderich, J, Bösl, MR, Tamm, ER and Wegner, M (2004) Gene targeting reveals a widespread role for the high-mobility-group transcription factor Sox11 in tissue remodeling. Mol. Cell. Biol. 24:6635-44

Abstract

The high-mobility-group domain-containing transcription factor Sox11 is expressed transiently during embryonic development in many tissues that undergo inductive remodeling. Here we have analyzed the function of Sox11 by gene deletion in the mouse. Sox11-deficient mice died at birth from congenital cyanosis, likely resulting from heart defects. These included ventricular septation defects and outflow tract malformations that ranged from arterial common trunk to a condition known as double outlet right ventricle. Many other organs that normally express Sox11 also exhibited severe developmental defects. We observed various craniofacial and skeletal malformations, asplenia, and hypoplasia of the lung, stomach, and pancreas. Eyelids and the abdominal wall did not close properly in some Sox11-deficient mice. This phenotype suggests a prime function for Sox11 in tissue remodeling and identifies SOX11 as a potentially mutated gene in corresponding human malformation syndromes.

Links

PubMed PMC444853 Online version:10.1128/MCB.24.15.6635-6644.2004

Keywords

Animals; Bone and Bones/abnormalities; Cyanosis/genetics; Cyanosis/metabolism; Galactosides/metabolism; Gene Deletion; Gene Expression Regulation, Developmental; Gene Targeting; Genotype; Heart Defects, Congenital/genetics; High Mobility Group Proteins/genetics; High Mobility Group Proteins/metabolism; High Mobility Group Proteins/physiology; Indoles/metabolism; Mice; Mice, Mutant Strains; Microscopy, Electron, Scanning; Models, Genetic; Phenotype; SOXC Transcription Factors; Time Factors; Trans-Activators; beta-Galactosidase/metabolism

Significance

Annotations

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

MOUSE:SOX11

involved_in

GO:0003151: outflow tract morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:SOX11

involved_in

GO:0045778: positive regulation of ossification

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:SOX11

involved_in

GO:0048557: embryonic digestive tract morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:SOX11

involved_in

GO:0048704: embryonic skeletal system morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:SOX11

involved_in

GO:0060022: hard palate development

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:SOX11

involved_in

GO:0060023: soft palate development

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:SOX11

involved_in

GO:0060412: ventricular septum morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:SOX11

involved_in

GO:0060425: lung morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:SOX11

involved_in

GO:0061029: eyelid development in camera-type eye

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete


See also

References

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