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Phenotypes Associated with This Genotype
involves: 129S4/SvJae
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gjb1tm1Kwi mutation (1 available); any Gjb1 mutation (30 available)
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
DO ID OMIM ID(s) Ref(s)
Charcot-Marie-Tooth disease X-linked dominant 1 DOID:0110209 OMIM:302800

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