Charcot Marie Tooth Disease Type 1AÂ – C3-PMP22 Mouse Model
Test the efficacy of your new treatments using the C3-PMP22 mouse model that better resembles the course of human CMT1A disease progression
C3-PMP22 Mouse Model Key Characteristics:
Charcot Marie Tooth Disease Type 1A (CMT1A) is a hereditary, demyelinating peripheral neuropathy, leading to progressive skeletal muscle atrophy, weakness, and subsequent walking disabilities and sensory impairments. This autosomal, dominantly inherited disease is caused by a duplication of a segment on chromosome 17p11.2 containing the gene encoding peripheral myelin protein 22 (PMP22).Â
To help accelerate CMT1A research to clinic, InnoSer offers specialized preclinical research services using the C3-PMP22 mouse model (Verhamme et al. 2011) of CMT1A. Transgenic C3-PMP22 mice carry multiple copies of the wild-type human PMP22 gene. The C3-PMP22 mouse model shows a mild disease phenotype that more closely resembles the human disease pathophysiology. As part of our services, InnoSer offers you with efficacy studies in the C3-PMP22 mouse model of CMT1A, focusing on functional readouts such as sciatic nerve conduction electrophysiology and motor function assessments, as well as histopathology analyses.
✓ The C3-PMP22 mouse model reverts back to the original C22-PMP22 model after being bred with C57BL/6J mice.
✓ Model contains 3 to 4 copies of the human PMP22 gene.
✓ In comparison to the original C22-PMP22 model, the C3-PMP22 model shows a milder disease phenotype, better resembling the human disease course of CMT1A.
✓ Model is extensively characterized (findings published with Michailidou et al. 2023).
InnoSer’s scientists have extensive experience in performing efficacy studies in the C3-PMP22 mouse model of CMT1A and have published numerous papers using this mouse model (Michailidou et al. 2023 and Prior et al. 2024).
InnoSer’s neurology expert team possesses relevant experience in working with multiple therapy types ranging from small molecules, peptides, enzymes, oligonucleotides, and gene therapy (viral vectors – e.g.. AAVs).Â
Your CMT1A Research Starts Here.
Download your leaflet detailing study timelines, recommended readouts, and example data in the C3-PMP22 mouse model of CMT1A.
C3-PMP22 Mouse Model Sample Data
C3-PMP22 mice have reduced motor function, as indicated by a higher number of slips on the balance beam
The Balance Beam sensorimotor coordination test scores the ability of mice to traverse a stationary horizontal rod. The coordination of the mouse is measured by the latency to cross the beam and the number of foot slips made.
Sciatic nerve conduction recording in C3-PMP22 mice
Compared to WT mice, C3-PMP22 mutant mice (9 weeks of age) show significantly prolonged nerve conduction velocity latencies, as well as a significant reduction in CMAP amplitude recordings.
Compared to WT mice, C3PMP22 mice (15 -week-old) show deficits in motor function
The Rotarod is the golden standard for assessing motor performance and learning in mice. The mice are placed on a rotating rod, with increasing rotating speed. Motor performance is measured by the maximal RPM (rounds per minute) at which mice are able to keep up with the rotating rod. Motor learning can be assessed by training mice on the rod for several trials.Â
C3-PMP22 Mouse Model Readouts
Biological Readouts
Test the efficacy of your treatments with the following biological readouts:Â
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- Compound muscle action potential (CMAP)
- Sensory nerve conduction velocity (SNCV)
- Sciatic nerve histology
Our Team’s Featured Publications
- Michailidou, I., Vreijling, J., Rumpf, M., Loos, M., Koopmans, B., Vlek, N., Straat, N., Agaser, C., Kuipers, T. B., Mei, H., Baas, F., & Fluiter, K. (2023). The systemic inhibition of the terminal complement system reduces neuroinflammation but does not improve motor function in mouse models of CMT1A with overexpressed PMP22. Current research in neurobiology, 4, 100077. https://doi.org/10.1016/j.crneur.2023.100077
- Prior, R., Silva, A., Vangansewinkel, T., Idkowiak, J., Tharkeshwar, A. K., Hellings, T. P., Michailidou, I., Vreijling, J., Loos, M., Koopmans, B., Vlek, N., Agaser, C., Kuipers, T. B., Michiels, C., Rossaert, E., Verschoren, S., Vermeire, W., de Laat, V., Dehairs, J., Eggermont, K., … Van Den Bosch, L. (2024). PMP22 duplication dysregulates lipid homeostasis and plasma membrane organization in developing human Schwann cells. Brain : a journal of neurology, 147(9), 3113–3130. https://doi.org/10.1093/brain/awae158
The People Behind Your Research
Thomas Vogels, PhD, In Vivo Neurology Study Director
Leads an expert team of scientists with vast experience in our Neurology models to help you choose the right model and guide your optimal study design. We provide the solution to accelerating your drug development.
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