Actc1-flox Mouse

Actc1, also known as actin, alpha, cardiac muscle 1, encodes a highly conserved actin. It binds to myosin in cardiac and skeletal muscle, playing a crucial role in the contraction of the human sarcomere [1,3]. The interactions it is involved in are fundamental to muscle function, and understanding its function can be enhanced through genetic models like KO or CKO mouse models.

Pathogenic variants in Actc1 have been associated with various cardiac and skeletal muscle diseases. It has been found to underlie atrial septal defect, dilated cardiomyopathy, hypertrophic cardiomyopathy, left ventricular non-compaction, and a new form of distal arthrogryposis accompanied by congenital heart defects [1,3]. In a case report, a 2-year-old with an Actc1 gene mutation presented with Prinzmetal angina and associated left ventricular non-compaction [5]. Also, in glioma, Actc1 may serve as a novel independent prognostic and invasion marker, with its expression increasing according to WHO grade and being related to survival and tumor invasion [2]. In epithelial ovarian cancer, the co-overexpression of GRK5 and Actc1 is an independent prognostic biomarker [4].

In conclusion, Actc1 is essential for muscle contraction in both cardiac and skeletal muscles. Its role in various disease conditions such as congenital heart defects, certain cardiomyopathies, and in some types of cancers has been revealed through clinical and genetic studies. These findings from different research contribute to understanding the biological functions of Actc1 and may provide insights for disease diagnosis, prognosis, and treatment.