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Phenotypes Associated with This Genotype
Genotype
MGI:8235767
Allelic
Composition
Gjb1em4Rwb/Y
Genetic
Background
C57BL/6J-Gjb1em4Rwb/RwbJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gjb1em4Rwb mutation (0 available); any Gjb1 mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular

nervous system
• circulating neurofilament light chain is mildly elevated at 2 months and very elevated at 5 months. Thinly myelinated axons, demyelinated axons, degenerating axons and regenerating axon bundles are found in peripheral nerves at 3 months of age. The femoral nerve is more severely affected than the sensory branch, with proximal ventral roots only mildly affected
• Thinly myelinated axons, demyelinated axons, degenerating axons and regenerating axon bundles were found in peripheral nerves at approximately 3 months of age. The femoral nerve was more severely affected than the sensory branch, with proximal ventral roots only mildly affected.
• Nerve conduction velocities of sciatic nerves were found to be reduced by 18 months of age but not 3 or 5 months of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Charcot-Marie-Tooth disease X-linked dominant 1 DOID:0110209 OMIM:302800
J:369610


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
08/05/2025
MGI 6.24
The Jackson Laboratory