Mouse Genome Informatics
ot
    Gjb1tm1Kwi/Y
involves: 129S4/SvJae
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
behavior/neurological
N
• no obvious behavioral abnormalities (J:40955)

nervous system
• mutants develop late-onset progressive peripheral neuropathy with demyelination and remyelination of axons (J:40955)
• 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 (J:40955)
• noncompacted aspects of myelinating Schwann cells are abnormally organized, consisting of cytoplasm containing lysosomes, multivesicular bodies, and other vesicular structures (J:40955)
• peraxonal collars are enlarged in quadriceps nerve and saphenous nerve at 6 months of age (J:40955)
• the axons in the center of onion bulbs are thinly myelinated (J:40955)
• myelin degeneration in quadriceps nerves (J:40955)
• 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 (J:40955)
• conduction abnormalities are milder in 1 year old mice (J:40955)

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