Phenotypes Associated with This Genotype

Genotype
MGI:4821788

• Allelic Composition: Gjb1^tm1Kwi/Gjb1^tm1Kwi
• Genetic Background: involves: 129S4/SvJae

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

behavior/neurological

behavior/neurological phenotype ( J:40955 )

♀N • no obvious behavioral abnormalities

nervous system

abnormal nervous system morphology ( J:40955 )

♀ • mutants develop late-onset progressive peripheral neuropathy with demyelination and remyelination of axons

abnormal Schwann cell morphology ( 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

♀ • noncompacted aspects of myelinating Schwann cells are abnormally organized, consisting of cytoplasm containing lysosomes, multivesicular bodies, and other vesicular structures

abnormal axon morphology ( J:40955 )

♀ • peraxonal collars are enlarged in quadriceps nerve and saphenous nerve at 6 months of age

abnormal myelination ( J:40955 )

♀ • the axons in the center of onion bulbs are thinly myelinated

demyelination ( J:40955 )

♀ • myelin degeneration in quadriceps nerves

abnormal nerve conduction ( 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

♀ • 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	J:40955