Phenotypes Associated with This Genotype

Genotype
MGI:8233836

• Allelic Composition: Gjb1^em2Rwb/Y
• Genetic Background: C57BL/6J-Gjb1^em2Rwb/RwbJ

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

cellular

abnormal Schwann cell physiology ( J:369610 )

• A small subset of this mutant protein with a single R15Q point substitution is found retained in the cytoplasm although the majority is correctly in the plasma membrane of the nodes of Ranvier

nervous system

abnormal Schwann cell physiology ( J:369610 )

• A small subset of this mutant protein with a single R15Q point substitution is found retained in the cytoplasm although the majority is correctly in the plasma membrane of the nodes of Ranvier

axon degeneration ( J:369610 )

• circulating neurofilament light chain is mildly elevated at 2 months and very elevated at 9 months. Thinly myelinated axons, demyelinated axons, degenerating axons and regenerating axon bundles were found in peripheral nerves at 5 to 6 months of age. The femoral nerve was more severely affected than the sensory branch, with proximal ventral roots only mildly affected

abnormal myelination ( J:369610 )

• Thinly myelinated axons, demyelinated axons, degenerating axons and regenerating axon bundles were found in peripheral nerves at 5 to 6 months of age. The femoral nerve was more severely affected than the sensory branch, with proximal ventral roots only mildly affected. The onset of disease is delayed relative to that of a null allele.

demyelination ( J:369610 )

decreased nerve conduction velocity ( J:369610 )

• Nerve conduction velocities of sciatic nerves were found to be reduced by 9 months of age but not 6 months of age, the amplitude of compound muscle action potentials was not reduced, and body weights and triceps surae weights were normal

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