Finding the unicorn, a new mouse model of midfacial clefting

Brandi Lantz, Casey White, Xinyun Liu, Yong Wan, George Gabriel, Cecilia W.Y. Lo, Heather L. Szabo-Rogers*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

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 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.

Original languageEnglish (US)
Article number83
JournalGenes
Volume11
Issue number1
DOIs
StatePublished - Jan 2020
Externally publishedYes

Keywords

  • Leo1
  • Medial nasal prominences
  • Midfacial clefting
  • Nasal septum
  • Raldh2
  • Unicorn

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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