Gaa KO Mouse

The GAA gene encodes lysosomal acid alpha-glucosidase, a critical enzyme responsible for the hydrolysis of glycogen within lysosomes. Expressed across various tissues, including muscle and liver, GAA resides on mouse chromosome 11 and human chromosome 17 and follows an autosomal recessive inheritance pattern ^[1]. Pathogenic mutations in GAA lead to Glycogen Storage Disease Type II, commonly known as Pompe disease, a condition characterized by the intralysosomal accumulation of glycogen ^[2]. This accumulation primarily affects cardiac and skeletal muscle, resulting in progressive muscle weakness. In severe infantile-onset cases, Pompe disease manifests with marked cardiomyopathy and respiratory insufficiency ^[2-3]. Animal models deficient in Gaa have proven invaluable for elucidating disease mechanisms and evaluating therapeutic interventions.

The Gaa KO mouse is a gene knockout model created using gene-editing techniques to knock out the coding sequence of the Gaa gene (the homolog of the human GAA gene) in mice. This model is used to research the pathogenic mechanisms of Glycogen Storage Disease Type II (Pompe disease) and develop related therapeutic strategies.