Ccdc88c-flox Mouse

CCDC88C, encoding coiled-coil domain containing 88C, is essential for cell communication during neural development. It is a component of non-canonical Wnt signaling and may be involved in processes like neuronal migration [1,2,3,4].

Pathogenic variants in CCDC88C have been linked to multiple disorders. In neural development, it is associated with congenital hydrocephalus, some cases accompanied by seizures. De novo and biallelic CCDC88C variants were identified in patients with focal epilepsy, showing genotype-phenotype correlations [1]. In breast cancer, it drives metastasis by promoting c-JUN-mediated CEMIP transcription and is an O-GalNAc glycosylation substrate of GALNT6 [2]. It has also been associated with spinocerebellar ataxia, early-onset pure spastic paraplegia, and is a rare cause of severe congenital hydrocephalus [5,6,7].

In conclusion, CCDC88C plays a crucial role in neural development and is associated with various diseases such as epilepsy, breast cancer metastasis, spinocerebellar ataxia, and congenital hydrocephalus. Understanding its function through studies on its variants provides insights into the molecular mechanisms underlying these diseases.