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Mouse Model - Pompe Disease

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A novel and improved mouse model which shows the characteristics of human Infantile Onset Pompe Disease

THIS NOVEL POMPE DISEASE MOUSE MODEL was generated to provide a true human-equivalent mutation mouse model to study Infantile Onset Pompe Disease (IOPD) and provide a means for the development of novel, effective therapeutics for IOPD.

STAGE OF DEVELOPMENT: Ready for distribution (embryo and sperm available)

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Currently, there is a widely utilized knockout mouse model of Pompe Disease (Raben model, B6;129-Gaa tm1Rabn/J) that demonstrates survival into adulthood, however muscle glycogen storage and progressive muscle weakness does not become clinically evident until 12 months of age and this delays clinical assessment of treatment efficacy. Additionally, The Raben model does not bear an analog of a human Gaa mutation and contains large exonic inserts, complicating preliminary efforts at in vivo genome correction.
Our novel IOPD mouse model (called "Gaa c.1826dupA") is a knock-in mutation of an orthologous Gaa mutation found in human IOPD. This means that the Gaa c.1826dupA mouse model is much “closer” in genetic homology to human Pompe Disease. It develops significant hypertrophic cardiomyopathy, muscle glycogen storage, and muscle weakness beginning at 3 months of age, which significantly shortens the ‘time-to-wait’ required for assessment of efficacy of potential treatments. This new mouse model provides a superior research and development tool for IOPD. OUR MODEL'S BENEFITS: • Closely resembles genetic homology to real-life human IOPD • 9 months of timesaving for researchers when compared to the current "gold standard" mouse model • Opens up therapeutic options beyond the well-known enzyme replacement therapy, including CRISPR-Cas9 (single nucleotide genomic engineering and therapy)

Reference Technology ID: D3969

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