Phenotypes Associated with This Genotype

Genotype
MGI:8175631

• Allelic Composition: Gjb1^em1Ckab/Y
• Genetic Background: C57BL/6-Gjb1^em1Ckab

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

behavior/neurological

impaired coordination ( J:350504 )

♂ • mice are slower on the 12 mm beam at 12 months of age compared to wild-type and compared to Gjb1^tm1Kwi hemizygotes

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

♂ • mice show increased number of slips on the 6 mm beam at 12 months of age but no differences in time to transverse the 6 mm beam

♂ • mice show a greater number of slips on the 12 mm balance beam at 6 months of age compared to Gjb1^tm1Kwi hemizygotes

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 and 12-month-old mice exhibit slower sciatic and 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