Table 1.

Indicated are the expression patterns, human disease associations and phenotypes for the murine homozygous deletion of the T-box, GATA and retinoid-related orphan receptor (ROR) family members

Family	Transcription factor	Cell type expression	Human disease association	Mouse knockout phenotype
T-box	Brachyury	Embryo, mesoderm	Weak association with spina bifida15	Embryonic lethal
	Tpit	Pituitary	ACTH deficiency	ACTH deficiency and pigment defects
	Tbx20	Heart	Congenital heart defects (CHD)16	Embryonic lethal
	Tbx10	Palate	Unknown	Cleft lip/palate
	Tbx1	Craniofacial tissue, heart, mesoderm	Digeorge syndrome; heart, glandular and vascular defects	Neonatal lethal
	Tbx22	Palate	X-linked cleft palate	Unknown
	Tbx18	Heart, vertebrae	Unknown	Perinatal lethal
	Tbx15	Limb, craniofacial	Unknown	Skeletal limb defects
	Tbx2	Heart, limb, embryo	Duplicated in breast cancer17	Embryonic lethal
	Tbx3	Heart, limb	Ulnar-mammary syndrome	Embryonic lethal
	Tbx4	Limb, embryo	Small patella syndrome18	Embryonic lethal
	Tbx5	Heart, limb	Holt–Oram syndrome, CHD	Embryonic lethal
	Tbx6	Vertebrae, mesoderm	Unknown	Embryonic lethal
	T-bet	Immune cells, including Th1, NKT, NK, CD8+ T cells and dendritic cells	Asthma with decreased T-bet	Immune defects including Th1 and NKT cell deficiency, asthma, increased tumour metastisis,69 resistance to EAE,70 colitis71
	Eomesodermin	Brain, mesoderm, immune cells	Microcephaly, chronic infections, motor delays19	Embryonic lethal
	Tbr1	Brain	Unknown	Perinatal lethal20
GATA	GATA-1	Erythroid cells, testis	Dyserythropoietic anaemia, thrombocytopenia	Embryonic lethal
	GATA-2	Pituitary, testis, adipocytes	Coronary artery disease, CML21	Embryonic lethal22
	GATA-3	Immune cells, including Th2 cells, mammary cells	HDR syndrome	Embryonic lethal
	GATA-4	Pancreas, testis, heart, neurons	CHD	Embryonic lethal
	GATA-5	Intestine, heart, pancreas	Unknown	Genitourinary defects in females
	GATA-6	Heart, lung, liver, pancreas, testis	Unknown	Embryonic lethal
ROR	RORα	1: Cerebellum	Unknown	Slow hair growth, ataxia, cerebellar atrophy
		2: Cerebellum and widely expressed
	RORβ	1: Brain, retina	Unknown	Duck-like gait, blindness, retinal degeneration
		2: Pineal gland, retina
	RORγ	1: Widely expressed	Unknown	No Peyer’s patches or lymph nodes
		2(γt): Immune cells, including Th17

The cell type expression pattern listed for each family member represents the best characterized cell types that have high levels of expression, but this should not be considered an exhaustive list. Similarly, the human diseases associated with each factor in the table are primarily attributable to polymorphisms and there are probably more pathogenic conditions related to the dysregulation of each factor. In the ROR cell type expression section, the numbers refer to the two characterized isoforms for each factor. Unless indicated, the information in this table has been expertly reviewed by Naiche et al.¹ for the T-box family, Viger et al.¹⁰ for the GATA family, and Jetten & Joo⁹ for the ROR family.

NK, natural killer; Th, T helper; ACTH, adrenocorticotropin; EAE, experimental autoimmune encephalomyelitis; CML, chronic myeloid leukemia; HDR, hypoparathyroidism, deafness, and renal dysplasia.