C57BL/6JCya-Adss1^em1flox/Cya

Adss1, also known as adenylosuccinate synthetase 1, is an enzyme that catalyzes a key step in AMP synthesis and is a component of the purine nucleotide cycle [1,3]. It functions in adenine nucleotide biosynthesis and is abundant in the heart and striated muscle tissues [1,2]. The gene is associated with pathways related to muscle development, cardiac hypertrophy, and purine de novo synthesis [1,2,5]. Genetic models, such as in mouse studies, have been valuable for understanding its functions.

In rodent models, Adss1 was up-regulated in surgically induced cardiac hypertrophy, and in vitro studies on rat neonatal cardiomyocytes showed that angiotensin II treatment activated the Adss1 gene through a calcineurin-NFAT3-dependent pathway [2]. In pigs, Adss1 was predominantly expressed in striated muscle tissues and its expression was up-regulated during muscle growth [1]. Additionally, ADSS1 myopathy, an autosomal recessive muscle disease caused by Adss1 variants, was reported in two siblings, with early involvement of various muscles and cardiomyopathy [4].

In conclusion, Adss1 plays essential roles in muscle and heart development and function, as revealed through model-based research. The gene's up-regulation in cardiac hypertrophy models and its association with ADSS1 myopathy contribute to our understanding of these disease conditions. The findings from different species models, especially mice, help to elucidate its biological functions and the underlying mechanisms in relevant diseases [1,2,4].