mortality/aging
• median life span is 4 months
|
homeostasis/metabolism
• collagen is increased within the perineurial compartment
|
behavior/neurological
• weak grip strength
|
abnormal gait
(
J:78758
)
• wobbling gait
|
growth/size/body
muscle
• atrophy of the paraspinal and hindlimb musculature
• leg muscles exhibit angulated and atrophic fibers suggestive of denervation
|
nervous system
• nerve development is arrested at the stage in which Schwann cells are segregating large axons away from bundles of mixed caliber axons
|
• Schwann cells incompletely retract their processes after segregation of large axons
• axon-sorting defect is more evident at P5 and P14 than at P28 and even at P45 and P90, some bundles of unsorted larger diameter axons remain indicating delayed axonal sorting
|
• sciatic nerve shows a mixture of fibers with thin myelin sheaths for the diameter of axon and fibers in which single Schwann cells ensheath axons, but form no myelin
|
• mice exhibit severe dysmyelination that results from developmental delay and not myelin destruction
• sciatic nerves at P5 and P14 contain virtually no myelin while occasional patches of myelination fibers are seen at P28 and more frequently at P42
• sciatic nerves show a mixture of fibers with thin myelin sheaths and fibers in which single Schwann cells ensheath axons but form no myelin
• by P10, less than 1% of axons in the motor branch (quadriceps) of developing femoral nerve in 1:1 relationships with Schwann cells are myelinated compared to 100% in wild-type
• the motor branch (quadriceps) is more dysmyelinated than the sensory branch (saphenous) of femoral nerve by P10
• ventral roots are more dysmyelinated than dorsal root
|
• nerve conduction velocities are reduced to about 2 m/s with temporal dispersion of the compound motor action potential, suggesting dysmyelinating neuropathy
|
reproductive system
infertility
(
J:78758
)
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
neuropathy | DOID:870 | J:78758 |