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Phenotypes Associated with This Genotype
B6.Cg-Pmp22Tr-J Krt25Re/+ +/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pmp22Tr-J mutation (2 available); any Pmp22 mutation (17 available)
phenotype observed in females
phenotype observed in males
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

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

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Charcot-Marie-Tooth disease type 1A DOID:0110148 OMIM:118220
J:3394 , J:101812

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.12
The Jackson Laboratory