The T-box family

Table 1 Mouse and human T-box-containing genes

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]
	EOMESODERMIN/
	(?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]

^*These sequences have been reported in mouse but not human; the human genes are hypothetical.

ISSN: 1474-760X