Micrognathia in mouse models of ciliopathies.
Biochem Soc Trans
; 44(6): 1753-1759, 2016 12 15.
Article
em En
| MEDLINE
| ID: mdl-27913686
ABSTRACT
Defects in the development of the mandible can lead to micrognathia, or small jaw, which manifests in ciliopathic conditions, such as orofaciodigital syndrome, Meckel-Gruber syndrome, and Bardet-Biedl syndrome. Although micrognathia occurs frequently in human and mouse ciliopathies, it has been difficult to pinpoint the underlying cellular causes. In this mini-review, we shed light on the tissue-specific contributions to ciliary dysfunction in the development of the mandible. First, we outline the steps involved in setting up the jaw primordium and subsequent steps in the outgrowth of the mandibular skeleton. We then determine the critical tissue interactions using mice carrying a conditional mutation in the cilia gene Ofd1 Our studies highlight the usefulness of the Ofd1 mouse model and illustrate long-term possibilities for understanding the cellular and biochemical events underlying micrognathia.
Palavras-chave
Buscar no Google
Base de dados:
MEDLINE
Assunto principal:
Modelos Animais de Doenças
/
Ciliopatias
/
Micrognatismo
/
Mutação
Limite:
Animals
/
Humans
Idioma:
En
Revista:
Biochem Soc Trans
Ano de publicação:
2016
Tipo de documento:
Article
País de afiliação:
Reino Unido