Analysis Tools
behavior/neurological
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• mice exhibit self-mutilation, presumably from sensory symptoms
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muscle
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• muscular atrophy is evident, with mice showing atrophy in axial and hindlimb muscles at P160
• symptoms are most severe in this line
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• mice exhibit variable signs of muscle weakness such as clenching of the apws, dragging of hind limbs and floppy tail
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nervous system
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• sciatic nerves shows widening of myelin lamellae
• poorly compacted areas show absence of the intraperiod line and occasionally, the major dense line is uncompacted, indicating packing abnormalities
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• occasional sciatic nerve fibers show thick and redundant myelin, likely indicating myelin outfolding or tomacula
• more frequent tomacula are seen at P7
• tomacula appear to originate from the paranodal region and contain poorly compacted myelin
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• occasionally older mice show signs of axonal degeneration
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demyelination
(
J:77658
)
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• occasionally older mice exhibit demyelinating figures and short internodes suggesting remyelination
• however, no onion bulbs are seen at any age
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• sciatic nerves at P28 show hypomyelination, with thin or absent myelin sheaths on many large caliber axons
• sciatic nerves at 7 months show more pronounced hypomyelination, with most large caliber axons showing very thin or absent myelin
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Charcot-Marie-Tooth disease type 1B | DOID:0110152 |
OMIM:118200 |
J:77658 | |
