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

Caroline S. Hirst, Lincon A. Stamp, Annette J Bergner, Marlene M Hao, Mai Tran, Jan Morgan, Mattihas Dutschmann, Andrew Mark Allen, George Paxinos, Teri Furlong, Sonja J. McKeown, Heather Margaret Young

Research output: Contribution to journalArticleResearchpeer-review

Abstract

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.

Original languageEnglish
Article number16676
Number of pages14
JournalScientific Reports
Volume7
Issue number1
DOIs
Publication statusPublished - 1 Dec 2017

Cite this

Hirst, C. S., Stamp, L. A., Bergner, A. J., Hao, M. M., Tran, M., Morgan, J., ... Young, H. M. (2017). Kif1bp loss in mice leads to defects in the peripheral and central nervous system and perinatal death. Scientific Reports, 7(1), [16676]. https://doi.org/10.1038/s41598-017-16965-3
Hirst, Caroline S. ; Stamp, Lincon A. ; Bergner, Annette J ; Hao, Marlene M ; Tran, Mai ; Morgan, Jan ; Dutschmann, Mattihas ; Allen, Andrew Mark ; Paxinos, George ; Furlong, Teri ; McKeown, Sonja J. ; Young, Heather Margaret. / Kif1bp loss in mice leads to defects in the peripheral and central nervous system and perinatal death. In: Scientific Reports. 2017 ; Vol. 7, No. 1.
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abstract = "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.",
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Hirst, CS, Stamp, LA, Bergner, AJ, Hao, MM, Tran, M, Morgan, J, Dutschmann, M, Allen, AM, Paxinos, G, Furlong, T, McKeown, SJ & Young, HM 2017, 'Kif1bp loss in mice leads to defects in the peripheral and central nervous system and perinatal death' Scientific Reports, vol. 7, no. 1, 16676. https://doi.org/10.1038/s41598-017-16965-3

Kif1bp loss in mice leads to defects in the peripheral and central nervous system and perinatal death. / Hirst, Caroline S.; Stamp, Lincon A.; Bergner, Annette J; Hao, Marlene M; Tran, Mai; Morgan, Jan; Dutschmann, Mattihas; Allen, Andrew Mark; Paxinos, George; Furlong, Teri; McKeown, Sonja J.; Young, Heather Margaret.

In: Scientific Reports, Vol. 7, No. 1, 16676, 01.12.2017.

Research output: Contribution to journalArticleResearchpeer-review

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AU - Allen, Andrew Mark

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AU - McKeown, Sonja J.

AU - Young, Heather Margaret

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