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Goldberg-Shprintzen syndrome is a poorly understood condition characterized by learning difficulties, facial dysmorphism, microcephaly, and Hirschsprung disease. GOSHS is due to recessive mutations in  KIAA1279 , which encodes kinesin family member 1 binding protein (KIF1BP, also known as KBP). We examined the effects of inactivation of  Kif1bp  in mice. Mice lacking Kif1bp died shortly after birth, and exhibited smaller brains, olfactory bulbs and anterior commissures, and defects in the vagal and sympathetic innervation of the gut.  Kif1bp  was found to interact with  Ret  to regulate the development of the vagal innervation of the stomach. Although newborn  Kif1bp  −/−  mice had neurons along the entire bowel, the colonization of the gut by neural crest-derived cells was delayed. The data show an essential  in vivo  role for KIF1BP in axon extension from some neurons, and the reduced size of the olfactory bulb also suggests additional roles for KIF1BP. Our mouse model provides a valuable resource to understand GOSHS.

Kif1bp loss in mice leads to defects in the peripheral and central nervous system and perinatal death