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Phenotypes Associated with This Genotype
involves: 129S4/SvJae * C57BL/6
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
• at 7-28 weeks of age, female homozygotes show a ~17% reduction in average body weight relative to wild-type controls

liver/biliary system
• female homozygotes show a ~1000-fold reduction in the total area of gap junctional plaques in the liver relative to wild-type controls

nervous system
• young female homozygotes (2-4.5 months of age) show normal mixed afferent and motor nerve conduction in the sciatic nerve and no defects in the refractory periods and motor nerve conduction in the facial nerve relative to age-matched control mice
• no morphologic abnormalities of the myelin sheath are detected in the sciatic nerve at 3 months of age, as determined by electron microscopy
• mice develop a demyelinating peripheral neuropathy after 3 months of age
• onion bulbs, consisting of supernumerary Schwann cells around axons resulting from repeating demyelination and remyelination, develop between 5-12 months of age
• denervated Schwann cells are occasionally observed
• myelinated fibers show an accumulation of adaxonal Schwann cell cytoplasm
• internodes of 9 month old ventral root fibers are shorter and thinner, with abrupt changes in their lengths and myelin thickness along a single fiber
• remyelinated axons contain thin myelin sheaths
• some incisures appear to be abnormally widened
• nerves exhibit separation of the myelin sheath from the axon
• nerves exhibit splitting of the myelin sheath itself
• central nervous system myelin appears normal
• demyelinated and remyelinated axons are seen by 3 months of age in motor and sensory branches of the femoral nerve and in the ventral and dorsal roots and in sciatic nerve
• number of demyelinated and remyelinated axons are increased further between 5-12 months of age in femoral and sciatic nerves
• motor fibers in the femoral and sciatic nerves and ventral roots are more affected than sensory fibers and dorsal roots

• no obvious behavioral abnormalities

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 6.08
The Jackson Laboratory