Analysis Tools
behavior/neurological
| N |
• 1-year-old heterozygotes behave normally in the Von Frey test and accelerating rotarod test, indicating lack of sensory deficits
|
|
• heterozygotes develop a slowly progressive motor-selective behavioral defect by 1 year of age, with a greater reduction in the latency time (s) to fall from an inverted screen at 12 months than at 6 months of age
• however, motor function is normal at 3 months of age
|
nervous system
| N |
• at 12 months of age, sciatic (mixed), femoral (primarily motor), and sural (primarily sensory) nerves exhibit normal axon density; footpads show normal intraepidermal nerve fiber (IENF) density at 3 and at 12 months of age
|
|
• heterozygotes exhibit a progressive, distal motor neuropathy with NMJ denervation, an early feature of ALS pathology
|
|
• 1-year-old heterozygotes show denervation of lumbrical NMJs with a ~4-fold increase in the fraction of fully denervated postsynaptic AChR clusters; denervation occurs in roughly contiguous regions that are adjacent to well innervated portions of the same muscle
• however, lumbrical innervation is relatively normal at 3 months and no obvious synaptic denervation is noted in the more proximal EDL muscle
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| amyotrophic lateral sclerosis | DOID:332 |
OMIM:PS105400 |
J:337175 | |
| motor peripheral neuropathy | DOID:2477 | J:337175 | ||
