Gaa KO Mouse
Product Name
Gaa KO Mouse
Product ID
C001702
Strain Name
C57BL/6JCya-Gaaem1/Cya
Backgroud
C57BL/6JCya
Status
When using this mouse strain in a publication, please cite “Gaa KO Mouse (Catalog C001702) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
Gene Name
Gaa
Gene Alias
E430018M07Rik
NCBI ID
Chromosome
Chr 11 (Mouse)
MGI ID
Datasheet
Strain Description
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.
Reference
Taverna S, Cammarata G, Colomba P, Sciarrino S, Zizzo C, Francofonte D, Zora M, Scalia S, Brando C, Curto AL, Marsana EM, Olivieri R, Vitale S, Duro G. Pompe disease: pathogenesis, molecular genetics and diagnosis. Aging (Albany NY). 2020 Aug 3;12(15):15856-15874.
Unnisa Z, Yoon JK, Schindler JW, Mason C, van Til NP. Gene Therapy Developments for Pompe Disease. Biomedicines. 2022 Jan 28;10(2):302.
Labella B, Cotti Piccinelli S, Risi B, Caria F, Damioli S, Bertella E, Poli L, Padovani A, Filosto M. A Comprehensive Update on Late-Onset Pompe Disease. Biomolecules. 2023 Aug 22;13(9):1279.
Strain Strategy
The mouse Gaa gene in mice consists of 20 exons, with the start codon in exon 2 and the stop codon in exon 20. This strain was created by gene-editing techniques that knocked out the region spanning exons 3~15.
Figure 1. Diagram of the gene editing strategy for the generation of Gaa KO mice.
Application Area
Studies of lysosomal glycogen metabolism;
Research on Glycogen Storage Disease Type II (Pompe disease) pathogenesis and therapeutic drug evaluation.
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