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.

Wilson and Conlon Genome Biology 2002 3:reviews3008.1   doi:10.1186/gb-2002-3-6-reviews3008