Analysis Tools
cellular
|
• Peripheral sensory neurons from heterozygotes have prolonged mitochondria-lysosome contact in the axons but not the soma, with decreased mitochondrial motility and increased mitochondrial density. Electron microscopy of the sciatic nerve axon mitochondria shows normal area, perimeter, and roundness, but decreased circularity, interconnectivity, aspect ratio, and increased mitochondrial branching, consistent with fragmentation of mitochondria.
|
|
• lysosomes in the soma of the peripheral sensory neurons are larger than normal and lysosomal:mitochondrial contact has increased duration in the axons
|
|
• increased duration of lysosomal:mitochondrial contact in axons of peripheral sensory nerves
|
|
• decreased mitochondrial motility
|
nervous system
|
• Peripheral sensory neurons from heterozygotes have prolonged mitochondria-lysosome contact in the axons but not the soma, with decreased mitochondrial motility and increased mitochondrial density. Electron microscopy of the sciatic nerve axon mitochondria shows normal area, perimeter, and roundness, but decreased circularity, interconnectivity, aspect ratio, and increased mitochondrial branching, consistent with fragmentation of mitochondria.
|
|
• dramatic decrease in intra-epidermal nerve fiber density
|
behavior/neurological
|
• no significant motor deficits in gait, hind-foot grip strength, or rotarod assessment, but heterozygotes show pain hypersensitivity
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Charcot-Marie-Tooth disease type 2B | DOID:0110159 |
OMIM:600882 |
J:346904 | |
