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Table 1 Mouse and human T-box-containing genes

From: The T-box family

Subfamily Gene Human Chromosome Expression Heterozygous phenotype in human (null phenotype of mouse homolog) Reference (mutations only)
Brachyury BRACHYURY 6 Primitive streak, tail bud, and notochord Spinal cord defects (anteroposterior axis defects) [22-26]
  TBX19 (TPIT) 1 Pituitary   [49,50]
T-brain1 T-BRAIN1 2 Cerebral cortex   [51]
  (?T-BRAIN2) 3 Trophoblast, early primitive streak, and cerebral cortex (Early postimplantation failure) [44,45]
  TBX21 (T-BET) 17 Th1 lineage, lung, and spleen (adult)   [52]
Tbx1 TBX1 22 Heart and pharyngeal arges DiGeorge syndrome [38-40]
  TBX10 11    [53]
  Tbx13 (MmTbx7)*     [10]
  Tbx14 (MmTbx8)*     [10]
  TBX15 1 Craniofacial region and limbs   [54]
  TBX18 6 Heart, somites, and limbs   [55]
  TBX20 (TBX12) 7 Heart, eye, ventral neural tube, and limb   [56,57]
  TBX22 X Fetus   [21,58]
Tbx2 TBX2 17 Limbs and heart X-linked cleft palate [59]
  TBX3 (including an alternative splice form) 12 Limbs and heart Ulnar-mammary syndrome [31,32]
  TBX4 17 Allantois, hindlimb   [30,60]
  TBX5 (including an alternative splice form) 12 Forelimb Holt-Oram syndrome (failure of heart development) [30,3,35-37]
Tbx6 TBX6 16 Primitive streak and tail bud (Respecification of posterior paraxial mesoderm as neurectoderm) [60]
  1. *These sequences have been reported in mouse but not human; the human genes are hypothetical.