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Fig. 2 | Acta Neuropathologica Communications

Fig. 2

From: CMT2Q-causing mutation in the Dhtkd1 gene lead to sensory defects, mitochondrial accumulation and altered metabolism in a knock-in mouse model

Fig. 2

Dhtkd1Y486*mutant mice exhibited an axonopathy, but no motor defects. a Semi-thin sections of distal sciatic nerve from 8 months old mice were stained with toluidine blue. Images were taken at 1000x magnification. b, c Sections of distal sciatic nerve from 8 month old mice were analyzed using transmission electron microscopy (TEM). Normal and pathological changes of myelin infoldings and axon dissolutions are indicated with arrows in the wt/mt and mt/mt mice. Scale bars: 5 μm (b) or 2 μm (c) c. d-f Pathological changes of myelin infoldings are indicated with arrows in mt/mt mice. Scale bars: 2 μm. g The number of large diameter axons (> 20 μm) and myelin thickness was quantified in the wt, wt/mt and mt/mt mice. A significant difference was observed in wt/mt and mt/mt mice in comparison to the wt group. h, i The quantification of axon number (diameter > 20 μm) and number of axons with myelin thickness over 2.6 μm in distal sciatic nerve of mice. Ten randomly selected fields (50~100 nerve fibers per field) from 3 to 5 ultrathin cross sections of sciatic nerve per mouse were analyzed, and 3 mice were analyzed per genotype. j The sensitivity to heat of 8 months old wt and mt/mt mice was recorded using the paw pain test (n = 10; * p < 0.05). Mt/mt mice displayed a greater latency in retracting their paws in comparison to wt mice. k The sensitivity threshold to touch of 8 months old wt and mt/mt mice was determined using the Von Frey test (n = 10; ** p < 0.01), which also showed that mt/mt mice displayed a greater latency in retracting their paws in comparison to wt mice. l The running distance/min (m) of 8 months old wt and mt/mt mice was recorded in the treadmill test (n = 10; n.s. p > 0.05), with no apparent difference between genotypes. m The time spent on Rotarod by 8 months old wt and mt/mt mice was recorded (n = 8; p > 0.05), with no apparent difference between genotypes. n The morphology of neuromuscular junctions of wt and mt/mt mice using AChE staining. Images were taken at 100x magnification. o Quantification of the number of neuromuscular junctions of wt and mt/mt. AChE staining was performed on frozen sections from the skeletal muscles from 8 months old mice, with no significant difference between genotypes

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