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-reviews3008.7   doi:10.1186/gb-2002-3-6-reviews3008