CCDC57

Model organisms

Model organisms have been used in the study of CCDC57 function. A conditional knockout mouse line, called Ccdc57^{tm1a(EUCOMM)Wtsi} was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Twenty six tests were carried out on mutant mice and two significant abnormalities were observed. The animals displayed hydrocephaly and had abnormal hypodermis fat layer morphology.