Charcot Marie Tooth Disease Type 1A

(C3-PMP22)

Mutations in the PMP22 gene cause several forms of neuropathies such as Charcot-Marie-Tooth Disease Type 1A 

Home » Neurology Research Models and Services  » Rare disease models – Charcot Marie Tooth Disease Type 1A (PMP22)
Charcot Marie Tooth Disease Type 1A (CMT1A) is the most prevalent hereditary demyelinating neuropathy. This autosomal, dominantly inherited disease is caused by a duplication on chromosome 17p which includes the peripheral myelin protein 22 (PMP22) gene.
InnoSer offers unique services with the C3-PMP22 CMT1A mouse model (Verhamme et al. 2011). The C3-PMP22 model resembles the clinical progression of CMT1A, representing a translationally relevant model. Using our own tests and protocols, we have confirmed a number of these phenotypes. 

Take advantage of InnoSer’s expertise, flexibility, and collaborative approach for your research. We support our clients in identifying new drugs or applications, characterizing their pharmacological properties, and conducting safety and efficacy testing with state-of-the-art readout capabilities and histopathological analysis. 

C3-PMP22 model key characteristics:

  • The C3-PMP22 mouse model reverts back to the original C22-PMP22 model on its own 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 characterised (findings published together with Michailidou et al. 2023).

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Belgian based preclinical neurology CRO mouse models

Key readouts

Test the efficacy of your treatments in the following battery of behavioural tests: 

Neuromuscular function 
  • Compound muscle action potential (CMAP) 
  • Sensory nerve conduction velocity (SNCV) 
Test the efficacy of your treatments with the following biological readouts:

  • Sciatic nerve histology

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AAALAC Accreditation

InnoSer has earned the AAALAC accreditation, demonstrating our commitment to responsible animal care and use. AAALAC International is a nonprofit organization that promotes the humane treatment of animals in science through voluntary accreditation and assessment programs. Our accreditation is valid for three years, incl. 2023. Read more about the AAALAC accreditation programme here.

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Animal Welfare

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References

  • Michailidou I, Vreijling J, Rumpf M, Loos M, Koopmans B, Vlek N, Straat N, Agaser C, Kuipers TB, Mei H, Baas F. 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. 2023 Jan 1;4:100077. 

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