Table 3.1.

Conserved transcription factors essential for pancreas development contributing to human and mouse pancreatic defects and disease

Transcription factor	Human disease	Mouse defect	References
PDX1	Pancreatic agenesis	Pancreatic agenesis	De Franco et al. [30]
	PNDM		Stoffers et al. [31]
	MODY4 (het)		Jonsson et al. [32]
HNF1B	Pancreatic hypoplasia	Pancreatic agenesis (Hz)	Haumaitre et al. [33]
	MODY5		Haumaitre et al. [34]
GLIS3	PNDM	Neonatal diabetes, loss of beta cells	Rubio-Cabezas et al. [35]
			Senée et al. [36]
			Kang et al. [37]
NEUROD1	PNDM (hz)	Postnatal death diabetes	Rubio-Cabezas et al. [38]
	MODY6 (het)		Malecki et al. [39]
	T2DM		Naya et al. [40]
NKX2.2	PNDM	Postnatal death—no beta cells	Flanagan et al. [41]
			Sussel et al. [42]
MNX1	PNDM	Dorsal pancreas agenesis	Flanagan et al. [41]
			Harrison et al. [43]
			Li et al. [44]
PAX6	PNDM	No alpha cells, reduced beta cells	Solomon et al. [45]
			St-Onge et al. [46]
PTF1A	Pancreatic agenesis	Pancreatic agenesis	Sellick et al. [47]
	PNDM		Weedon et al. [48]
			Kawaguchi et al. [49]
			Krapp et al. [50]
GATA6	Pancreatic agenesis (het)	None, but pancreatic agenesis in G6/G4 double knockout	De Franco et al. [30]
	PNDM		Allen et al. [51]
	Adult onset diabetes		Shaw-Smith et al. [52]
			Xuan et al. [53]
			Carrasco et al. [54]
NEUROG3	Adult onset diabetes (hypomorphic mutation)	Perinatal death, no endocrine cells	Rubio-Cabezas et al. [35]
	PNDM (biallelic mutations)		Gradwohl et al. [55]