A Novel Mouse Model for Cilia-Associated Cardiovascular Anomalies with a High Penetrance of Total Anomalous Pulmonary Venous Return.

ABSTRACT: Primary cilia are small organelles projecting from the cell surface of many cell types. They play a crucial role in the regulation of various signaling pathway. In this study, we investigated the importance of cilia for heart development by conditionally deleting intraflagellar transport protein Ift88 using the col3.6-cre mouse. Analysis of col3.6;Ift88 offspring showed a wide spectrum of cardiovascular defects including double outlet right ventricle and atrioventricular septal defects. In addition, we found that in the majority of specimens the pulmonary veins did not properly connect to the developing left atrium. The abnormal connections found resemble those seen in patients with total anomalous pulmonary venous return. Analysis of mutant hearts at early stages of development revealed a

SUBMITTER: Burns TA 

PROVIDER: S-EPMC6312498 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature