Mouse Genome Informatics
involves: 129S4/SvJae
phenotype observed in females
phenotype observed in males
N normal phenotype
• no obvious behavioral abnormalities

nervous system
• mutants develop late-onset progressive peripheral neuropathy with demyelination and remyelination of axons
• onion bulbs form in the quadriceps nerves, but only rarely in the saphenous nerves, of mutants older than 4 months of age, indicating myelin degeneration-induced Schwann cell proliferation
• noncompacted aspects of myelinating Schwann cells are abnormally organized, consisting of cytoplasm containing lysosomes, multivesicular bodies, and other vesicular structures
• peraxonal collars are enlarged in quadriceps nerve and saphenous nerve at 6 months of age
• the axons in the center of onion bulbs are thinly myelinated
• myelin degeneration in quadriceps nerves
• 4-6 month old mice exhibit a slight conduction slowing of peripheral nerves, an increase of the latency of the muscle response after distal stimulation of the sciatic nerve, and reduction of the M-amplitude after proximal sciatic nerve stimulation
• conduction abnormalities are milder in 1 year old mice

Mouse Models of Human Disease
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1; CMTX1 302800 J:40955