Phenotypes Associated with This Genotype

Genotype
MGI:8175633

• Allelic Composition: Gjb1^em2Ckab/Y
• Genetic Background: C57BL/6-Gjb1^em2Ckab

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

behavior/neurological

impaired coordination ( J:350504 )

♂ • mice take longer to traverse the 6 mm balance beam at 6 months of age compared to Gjb1^tm1Kwi hemizygotes and show more slips than wild-type mice at 6 months of age

decreased grip strength ( J:350504 )

♂ • hind limb and 4-limb grip strength is reduced at 6 months and 1 year of age

♂ • however, no difference in front limb grip strength is seen

nervous system

abnormal nervous system morphology ( J:350504 )

♂ • mice exhibit progressive motor neuropathy

demyelination ( J:350504 )

♂ • mice show degenerating myelinated axons and demyelinated axons; demyelinated axons are being remyelinated and axonal regeneration is replacing the degenerated axons

abnormal nerve conduction ( J:350504 )

♂ • the latency of the sciatic F-wave is prolonged in 6-month-old mice

♂ • however, the amplitude and distal latency of the sciatic motor compound muscle action potentials (CMAPs), as well as the amplitude of the caudal nerve response are not different

decreased nerve conduction velocity ( J:350504 )

♂ • 6-month-old mice exhibit slower sciatic and caudal nerve motor conduction velocity

♂ • 12-month-old mice exhibit slower sciatic, but not caudal, nerve motor conduction velocity

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:350504