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Phenotypes Associated with This Genotype
involves: FVB/N
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phenotype observed in females
phenotype observed in males
N normal phenotype
• limb clasping is observed when mutants are suspended by the tail
• mutants start to show impaired behavior on an accelerating rotarod starting at 6 months of age and progressive worsening over time
• progressive decline in grip strength of all paws
• mutants show hesitations in placing their paws and have increased hindpaw angles and decreased hindpaw print areas
• mutants exhibit a disturbed gait from 6 months of age, needing on average twice the number of step cycles to cross the walkway than controls, resulting in a 50% reduction of stride length
• mutants exhibit increased response latencies in the hot-plate test with age

• mutants exhibit increased response latencies in the hot-plate test with age

• mutants exhibit atrophic muscle fibers in the gastrocnemius muscle accompanied by pyknotic nuclear clumps
• gastrocnemius muscle has less acetylcholine receptor clusters per terminal axon

nervous system
• decrease in acetylated alpha-tubulin abundance in peripheral nerves of symptomatic mutants
• motor axonal loss
• sensorimotor axonal loss
• mutants exhibit an increase of denervated neuromuscular junctions
• decrease in the number of axons in distal parts of the sciatic nerve but not in the proximal parts
• mutants exhibit a decrease in peak-to-peak amplitude of compound muscle action potentials (CMAPs) at 8 months of age
• from 6 months of age, mutants show a decrease in baseline-to-peak amplitude of sensory nerve action potentials (SNAPs), however SNAP latencies are unaltered, indicating that sensory loss is due to an axonal neuropathy
• axonal transport of mitochondria in dorsal root ganglion is disturbed

Mouse Models of Human Disease
OMIM ID Ref(s)
Charcot-Marie-Tooth Disease, Axonal, Type 2F; CMT2F 606595 J:174508

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.03
The Jackson Laboratory