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Keywords = medial nasal prominences

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14 pages, 4870 KB  
Article
Finding the Unicorn, a New Mouse Model of Midfacial Clefting
by Brandi Lantz, Casey White, Xinyun Liu, Yong Wan, George Gabriel, Cecilia W. Y. Lo and Heather L. Szabo-Rogers
Genes 2020, 11(1), 83; https://doi.org/10.3390/genes11010083 - 11 Jan 2020
Cited by 6 | Viewed by 5766
Abstract
Human midfacial clefting is a rare subset of orofacial clefting and in severe cases, the cleft separates the nostrils splitting the nose into two independent structures. To begin to understand the morphological and genetic causes of midfacial clefting we recovered the Unicorn mouse [...] Read more.
Human midfacial clefting is a rare subset of orofacial clefting and in severe cases, the cleft separates the nostrils splitting the nose into two independent structures. To begin to understand the morphological and genetic causes of midfacial clefting we recovered the Unicorn mouse line. Unicorn embryos develop a complete midfacial cleft through the lip, and snout closely modelling human midfacial clefting. The Unicorn mouse line has ethylnitrosourea (ENU)-induced missense mutations in Raldh2 and Leo1. The mutations segregate with the cleft face phenotype. Importantly, the nasal cartilages and surrounding bones are patterned and develop normal morphology, except for the lateral displacement because of the cleft. We conclude that the midfacial cleft arises from the failure of the medial convergence of the paired medial nasal prominences between E10.5 to E11.5 rather than defective cell proliferation and death. Our work uncovers a novel mouse model and mechanism for the etiology of midfacial clefting. Full article
(This article belongs to the Special Issue Molecular Genetics of Facial Traits and Malformations)
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