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PMID:8622766

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Citation

Zhang, J, Hagopian-Donaldson, S, Serbedzija, G, Elsemore, J, Plehn-Dujowich, D, McMahon, AP, Flavell, RA and Williams, T (1996) Neural tube, skeletal and body wall defects in mice lacking transcription factor AP-2. Nature 381:238-41

Abstract

The retinoic acid-inducible transcription factor AP-2 is expressed in epithelial and neural crest cell lineages during murine development. AP-2 can regulate neural and epithelial gene transcription, and is associated with overexpression of c-erbB-2 in human breast-cancer cell lines. To ascertain the importance of AP-2 for normal development, we have derived mice containing a homozygous disruption of the AP-2 gene. These AP-2-null mice have multiple congenital defects and die at birth. In particular, the AP-2 knockout mice exhibit anencephaly, craniofacial defects and thoraco-abdominoschisis. Skeletal defects occur in the head and trunk region, where many bones are deformed or absent. Analysis of these mice earlier in embryogenesis indicates a failure of cranial neural-tube closure and defects in cranial ganglia development. We have shown that AP-2 is a fundamental regulator of mammalian craniofacial development.

Links

PubMed Online version:10.1038/381238a0

Keywords

Animals; Bone and Bones/abnormalities; Bone and Bones/embryology; Cranial Nerves/abnormalities; Cranial Nerves/embryology; DNA-Binding Proteins/genetics; DNA-Binding Proteins/physiology; Female; Fetus/abnormalities; Fetus/ultrastructure; Immunoenzyme Techniques; Male; Mice; Mice, Inbred C57BL; Mice, Knockout; Muscles/abnormalities; Muscles/embryology; Neural Crest/cytology; Neural Crest/embryology; Neural Tube Defects/embryology; Neural Tube Defects/genetics; Skull/abnormalities; Skull/embryology; Transcription Factor AP-2; Transcription Factors/genetics; Transcription Factors/physiology

Significance

Annotations

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

MOUSE:AP2A

acts_upstream_of_or_within

GO:0001843: neural tube closure

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:2176682

P

Seeded From UniProt

complete

MOUSE:AP2A

acts_upstream_of_or_within

GO:0014032: neural crest cell development

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:2176682

P

  • occurs_in:(EMAPA:16039)
  • results_in_development_of:(CL:0000008)

Seeded From UniProt

complete

MOUSE:AP2A

involved_in

GO:0021623: oculomotor nerve formation

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:AP2A

involved_in

GO:0021559: trigeminal nerve development

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:AP2A

involved_in

GO:0060349: bone morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:AP2A

involved_in

GO:0048701: embryonic cranial skeleton morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete


See also

References

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