behavior/neurological
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• mice are slower on the 12 mm beam at 12 months of age compared to wild-type and compared to Gjb1tm1Kwi 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 Gjb1tm1Kwi 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 Gjb1tm1Kwi hemizygotes
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• 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
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nervous system
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• mice exhibit progressive motor neuropathy
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• mice show degenerating myelinated axons and demyelinated axons; demyelinated axons are being remyelinated and axonal regeneration is replacing the degenerated axons
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• 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
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• 6-month-old and 12-month-old mice exhibit slower sciatic and caudal nerve motor conduction velocity
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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 |