Analysis Tools
mortality/aging
|
• mean survival is 227 days
|
nervous system
|
• 29% fewer lumbar spinal cord neurons than control in 3.5 month old mice
• 19% fewer facial nucleus neurons than control
• 5 day old mice did not exhibit reduced numbers of motor neurons
|
|
• ventral roots from L1-L5 lumbar spinal cord region contain few myelinated axons
• remaining axons are shriveled and exhibit Wallerian degeneration
|
|
• increased number of neuromuscular junctions in gastrocnemius
|
|
• intranuclear aggregates (gems) of the SMN protein in spinal cord are fewer and less intense than in normal littermates
|
|
• reduced amplitudes in evoked muscle potentials from tibial nerve
|
|
• axon sprouting occurs in gastrocnemius and triceps muscles
• sprouts are both nodal and emerge from the neuromuscular junction (terminal)
|
muscle
|
• angulated and atrophic fibers observed in gastrocnemius and to a lesser extent in quadriceps and intercostal muscles
|
|
• samples from multiple pelvic and thoracic muscles exhibit abnormal spontaneous activity of single muscle fibers and of motor units in 4-6 month old mice
• abnormal activity is occasionally accompanied by biphasic sharp waves
|
growth/size/body
|
• 20-40% smaller than normal littermates
|
weight loss
(
J:81238
)
|
• toward the end of life
|
reproductive system
behavior/neurological
poor grooming
(
J:81238
)
|
• mice fail to groom efficiently toward the end of life
|
limb grasping
(
J:81238
)
|
• muscle weakness exhibited by 3 weeks of age
|
|
• mice are less active by 3 weeks of age compared to normal littermates
• exhibit very little activity toward the end of life
|
respiratory system
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| juvenile spinal muscular atrophy | DOID:12376 |
OMIM:253400 |
J:81238 | |
