Mouse Genome Informatics
ht
    Pmp22Tr-J/Pmp22+
B6.Cg-Pmp22Tr-J Krt25Re/+ +/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
nervous system
• at 72 days, mice exhibit severe hypomyelination and the number of myelinated nerves is decreased compared to in wild-type mice
• 'onion bulb' formations are evidence of repetitive cycles of demyelination and remyelination
• at 30 days of age, compound muscle action potential (CMAP) amplitude is reduced 85%, distal motor latency is prolonged 112%, conduction velocity is reduced 81%, and CMAP duration is increased 253% compared to in wild-type mice
• at 72 days of age, CMAP amplitude is reduced 87%, distal motor latency is prolonged 77%, conduction velocity is reduced 72%, and CMAP duration is increased 326% compared to in wild-type mice

cellular
• proteosome activity is impaired
• autophagy is induced in neuropathic mouse nerves unlike in wild-type mice
• however, experimentally induced autophagy and or/ chaperones hinders Pmp22 protein aggregation

Mouse Models of Human Disease
OMIM IDRef(s)
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A; CMT1A 118220 J:3394 , J:101812