Table 1.

Roles of developmental genes in hypothalamic formation and physiological functions

Gene mutations	Developmental phenotypes	Functional consequences	References
Mash1 deletion	Failure of neurogenesis in the ARC and VMN	Unknown	[85–87]
Otp deletion	Failure of formation of the aPV/PVN/SON	Disrupted stress responses	[107–109, 111]
Sim1 heterozygous deletion	Reduction of OXT	Obesity	[121–123]
Ngn3 deletion	Decrease in neurons expressing POMC and SF-1, and increase in NPY cells	Obesity	[89, 90]
NHLH2 deletion	Disrupted GnRH migration	Infertility	[92, 93]
SF-1 deletion	Failure of formation of VMN	Obesity and anxiety	[94–99]
Lhx1 deletion	Disrupted production of neuropeptides AVP, Vip, and Grp	Disrupted SCN rhythm	[103]