Analysis Tools
mortality/aging
| N |
• mice exhibit normal lifespan
|
nervous system
|
• mice exhibit a loss of innervated neuromuscular junction unlike in wild-type mice
• however, treatment with doxycycline reverses loss of innervation
|
|
• dorsal and ventral root nerves are more fragile than in wild-type mice
|
|
• 5% to 10% of lumbar motor neurons exhibit neurofilament heavy polypeptide+ inclusions unlike wild-type cells
|
|
• microtubule density in axons is reduced compared to in wild-type cells
• however, mice do not exhibit axon loss and axons contain normal alpha and beta-III tubulin levels and neurofilament density
|
|
• mice exhibit a loss of innervated neuromuscular junction unlike in wild-type mice
• however, treatment with doxycycline reverses loss of innervation
|
|
• axonal transport is impaired compared to in wild-type cells
• duration and length of retrograde movement of mitochondria are increased compared to in wild-type cells
• net anterograde excursion length of mitochondria is reduced compared to in wild-type cells
|
behavior/neurological
| N |
• mice exhibit normal performance in a hot plate test
|
|
• limb clasping is increased 5-fold compared to in wild-type mice
• however, treatment with doxycycline reverses motor coordination defects
|
|
• mice travel fewer segments up a vertical pole than wild-type mice
• mice exhibit reduced performance on a rotarod compared with wild-type mice
• however, treatment with doxycycline reverses motor coordination defects
|
|
• at 6 months, mice exhibit abnormal hind limb posture unlike wild-type mice
|
muscle
|
• gastrocnemius muscle fibers are hypertrophic unlike in wild-type mice
• however, treatment with doxycycline reverses muscle hypertrophy
|
growth/size/body
| N |
• mice exhibit normal weight
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Charcot-Marie-Tooth disease type 2E | DOID:0110165 |
OMIM:607684 |
J:160704 | |
