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Gene Ontology Classifications
T-box 1

Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Tbx1. (This text reflects annotations as of Tuesday, May 26, 2015.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of July 6, 2011. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.
Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
  1. Aggarwal VS et al. (2010) Mesodermal Tbx1 is required for patterning the proximal mandible in mice. Dev Biol, 344:669-81. (PubMed:20501333)
  2. Aggarwal VS et al. (2006) Dissection of Tbx1 and Fgf interactions in mouse models of 22q11DS suggests functional redundancy. Hum Mol Genet, 15:3219-28. (PubMed:17000704)
  3. Arnold JS et al. (2006) Tissue-specific roles of Tbx1 in the development of the outer, middle and inner ear, defective in 22q11DS patients. Hum Mol Genet, 15:1629-39. (PubMed:16600992)
  4. Braunstein EM et al. (2008) Cooperative function of Tbx1 and Brn4 in the periotic mesenchyme is necessary for cochlea formation. J Assoc Res Otolaryngol, 9:33-43. (PubMed:18231833)
  5. Calmont A et al. (2011) Absence of the vagus nerve in the stomach of Tbx1-/- mutant mice. Neurogastroenterol Motil, 23:125-30. (PubMed:20939858)
  6. Calmont A et al. (2009) Tbx1 controls cardiac neural crest cell migration during arch artery development by regulating Gbx2 expression in the pharyngeal ectoderm. Development, 136:3173-83. (PubMed:19700621)
  7. Cao H et al. (2010) Tbx1 regulates progenitor cell proliferation in the dental epithelium by modulating Pitx2 activation of p21. Dev Biol, 347:289-300. (PubMed:20816801)
  8. Caton J et al. (2009) Enamel-free teeth: Tbx1 deletion affects amelogenesis in rodent incisors. Dev Biol, 328:493-505. (PubMed:19233155)
  9. Chen L et al. (2009) Tbx1 regulates proliferation and differentiation of multipotent heart progenitors. Circ Res, 105:842-51. (PubMed:19745164)
  10. Chen L et al. (2010) Tbx1 regulates Vegfr3 and is required for lymphatic vessel development. J Cell Biol, 189:417-24. (PubMed:20439995)
  11. Cheng L et al. (2004) Tlx3 and Tlx1 are post-mitotic selector genes determining glutamatergic over GABAergic cell fates. Nat Neurosci, 7:510-7. (PubMed:15064766)
  12. Fagman H et al. (2007) The 22q11 deletion syndrome candidate gene Tbx1 determines thyroid size and positioning. Hum Mol Genet, 16:276-85. (PubMed:17164259)
  13. Grifone R et al. (2008) Properties of branchiomeric and somite-derived muscle development in Tbx1 mutant embryos. Dev Dyn, 237:3071-3078. (PubMed:18816853)
  14. Guo C et al. (2011) A Tbx1-Six1/Eya1-Fgf8 genetic pathway controls mammalian cardiovascular and craniofacial morphogenesis. J Clin Invest, 121:1585-95. (PubMed:21364285)
  15. Guris DL et al. (2006) Dose-dependent interaction of Tbx1 and Crkl and locally aberrant RA signaling in a model of del22q11 syndrome. Dev Cell, 10:81-92. (PubMed:16399080)
  16. Jerome LA et al. (2001) DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat Genet, 27:286-91. (PubMed:11242110)
  17. Kelly RG et al. (2004) The del22q11.2 candidate gene Tbx1 regulates branchiomeric myogenesis. Hum Mol Genet, 13:2829-40. (PubMed:15385444)
  18. Lania G et al. (2009) Early thyroid development requires a Tbx1-Fgf8 pathway. Dev Biol, 328:109-17. (PubMed:19389367)
  19. Liao J et al. (2004) Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage. Hum Mol Genet, 13:1577-85. (PubMed:15190012)
  20. Lindsay EA et al. (2001) Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice. Nature, 410:97-101. (PubMed:11242049)
  21. Merscher S et al. (2001) TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell, 104:619-29. (PubMed:11239417)
  22. Moraes F et al. (2005) Tbx1 is required for proper neural crest migration and to stabilize spatial patterns during middle and inner ear development. Mech Dev, 122:199-212. (PubMed:15652707)
  23. Nowotschin S et al. (2006) Tbx1 affects asymmetric cardiac morphogenesis by regulating Pitx2 in the secondary heart field. Development, 133:1565-73. (PubMed:16556915)
  24. Okano J et al. (2008) Retinoic acid down-regulates Tbx1 expression and induces abnormal differentiation of tongue muscles in fetal mice. Dev Dyn, 237:3059-3070. (PubMed:18816858)
  25. Okubo T et al. (2011) Ripply3, a Tbx1 repressor, is required for development of the pharyngeal apparatus and its derivatives in mice. Development, 138:339-48. (PubMed:21177346)
  26. Paylor R et al. (2006) Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome. Proc Natl Acad Sci U S A, 103:7729-34. (PubMed:16684884)
  27. Raft S et al. (2004) Suppression of neural fate and control of inner ear morphogenesis by Tbx1. Development, 131:1801-12. (PubMed:15084464)
  28. Randall V et al. (2009) Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice. J Clin Invest, 119:3301-10. (PubMed:19855134)
  29. Sambasivan R et al. (2009) Distinct regulatory cascades govern extraocular and pharyngeal arch muscle progenitor cell fates. Dev Cell, 16:810-21. (PubMed:19531352)
  30. Stoller JZ et al. (2005) Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation. Hum Mol Genet, 14:885-92. (PubMed:15703190)
  31. Stoller JZ et al. (2010) Ash2l interacts with Tbx1 and is required during early embryogenesis. Exp Biol Med (Maywood), 235:569-76. (PubMed:20463296)
  32. Takeuchi JK et al. (2005) Tbx20 dose-dependently regulates transcription factor networks required for mouse heart and motoneuron development. Development, 132:2463-74. (PubMed:15843409)
  33. Theveniau-Ruissy M et al. (2008) The del22q11.2 candidate gene Tbx1 controls regional outflow tract identity and coronary artery patterning. Circ Res, 103:142-8. (PubMed:18583714)
  34. van Bueren KL et al. (2010) Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome. Dev Biol, 340:369-80. (PubMed:20122914)
  35. Vincent SD et al. (2014) Prdm1 functions in the mesoderm of the second heart field, where it interacts genetically with Tbx1, during outflow tract morphogenesis in the mouse embryo. Hum Mol Genet, 23:5087-101. (PubMed:24821700)
  36. Vitelli F et al. (2002) Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways. Hum Mol Genet, 11:915-22. (PubMed:11971873)
  37. Vitelli F et al. (2006) Fgf8 expression in the Tbx1 domain causes skeletal abnormalities and modifies the aortic arch but not the outflow tract phenotype of Tbx1 mutants. Dev Biol, 295:559-70. (PubMed:16696966)
  38. Vitelli F et al. (2010) Partial rescue of the Tbx1 mutant heart phenotype by Fgf8: genetic evidence of impaired tissue response to Fgf8. J Mol Cell Cardiol, 49:836-40. (PubMed:20807544)
  39. Vitelli F et al. (2003) TBX1 is required for inner ear morphogenesis. Hum Mol Genet, 12:2041-8. (PubMed:12913075)
  40. Xu H et al. (2007) In vivo genetic ablation of the periotic mesoderm affects cell proliferation survival and differentiation in the cochlea. Dev Biol, 310:329-40. (PubMed:17825816)
  41. Xu H et al. (2005) Timed mutation and cell-fate mapping reveal reiterated roles of Tbx1 during embryogenesis, and a crucial function during segmentation of the pharyngeal system via regulation of endoderm expansion. Development, 132:4387-95. (PubMed:16141220)
  42. Xu H et al. (2007) Tbx1 regulates population, proliferation and cell fate determination of otic epithelial cells. Dev Biol, 302:670-82. (PubMed:17074316)
  43. Xu H et al. (2004) Tbx1 has a dual role in the morphogenesis of the cardiac outflow tract. Development, 131:3217-27. (PubMed:15175244)
  44. Zhang Z et al. (2006) Mesodermal expression of Tbx1 is necessary and sufficient for pharyngeal arch and cardiac outflow tract development. Development, 133:3587-95. (PubMed:16914493)
  45. Zhang Z et al. (2008) In vivo response to high-resolution variation of Tbx1 mRNA dosage. Hum Mol Genet, 17:150-7. (PubMed:17916582)
  46. Zhang Z et al. (2005) Tbx1 expression in pharyngeal epithelia is necessary for pharyngeal arch artery development. Development, 132:5307-15. (PubMed:16284121)

Go Annotations in Tabular Form (Text View) (GO Graph)

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Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IAS Inferred from ancestral sequence
  IBA Inferred from biological aspect of ancestor
  IBD Inferred from biological aspect of descendant
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IKR Inferred from key residues
  IMP Inferred from mutant phenotype
  IMR Inferred from missing residues
  IPI Inferred from physical interaction
  IRD Inferred from rapid divergence
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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