Log in
Log into your PedsMrkt account to access our Community forums.
If you don't see an email, please check your Junk folder. The email will be sent from support@pedsmrkt.com
Mouse Model: Pompe Disease
Physical Product
Availability: Available to Ship
For informational purposes only. Please contact seller directly for more details.
Share This:
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)
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
Resources
Shipping Information
Digital delivery/downloads will typically be delivered within 2 business days.
Physical products typically take 5-8 business days. Please contact the seller directly with any questions about your order.
You will receive an order confirmation email from PedsMrkt followed by a shipping email when your order ships.
Returns
Please contact the seller directly for their return policy and to
handle returns. Customer will be responsible for return shipping fees.
