Figure 3.

Expression of hNF-L^E397K in mice results in aberrant hind limb posture and digit deformities. CMT is associated with aberrant posture of the lower limbs and structural deformities of the feet. To determine whether hNF-L^E397K mice developed similar signs of disease, hNF-L and hNF-L^E397K mice were induced to spread their hind limbs and digits. (A) When lifted by the base of the tail, hNF-L mice spread both hind limbs and digits. (B–C) However, hNF-L^E397K mice were unable to spread their hind limbs. Additionally, the digits on the paws of the hind limbs curled under the paw. This was observed both uni- (B) and bi-laterally (C). (D) Close-up of curled digits in hNF-L^E397K mice. (E) Aberrant hind limb posture and paw deformities were not due to excessive loss of musculature determined by monitoring total weight loss in both hNF-L and hNF-L^E397K mice. Weight was monitored by weighing 26 hNF-L and 35 hNF-LE397K mice once per week.