Constitutive Cyclin O deficiency results in penetrant hydrocephalus, impaired growth and infertility.

ABSTRACT: Cyclin O (encoded by CCNO) is a member of the cyclin family with regulatory functions in ciliogenesis and apoptosis. Homozygous CCNO mutations have been identified in human patients with Reduced Generation of Multiple Motile Cilia (RGMC) and conditional inactivation of Ccno in the mouse recapitulates some of the pathologies associated with the human disease. These include defects in the development of motile cilia and hydrocephalus. To further investigate the functions of Ccno in vivo, we have generated a new mouse model characterized by the constitutive loss of Ccno in all tissues and followed a cohort during ageing. Ccno^-/- mice were growth impaired and developed hydrocephalus with high penetrance. In addition, some Ccno<

SUBMITTER: Nunez-Olle M 

PROVIDER: S-EPMC5725090 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature