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Phenotypes Associated with This Genotype
Not Specified
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phenotype observed in females
phenotype observed in males
N normal phenotype
• when lifted by the tail, mutants are unable to spread their hind limbs, the lower joints appear stiff, and the digits of the hind limb curl instead of spreading
• signs of hind limb weakness as seen as early as 4 months of age
• aberrant hindlimb posture
• mutants show reduced levels of voluntary locomotor activity relative to mice expressing the wild-type human NEFL on nights 3-5 of observation
• total distance run in a running wheel over the course of a week is reduced compared to controls

• digit abnormalities as seen as early as 4 months of age

• mutants exhibit progressive muscle atrophy in the hind limbs without signs of muscle denervation by 6 months of age

nervous system
• ectopic accumulation of phosphorylated neurofilaments in motor neuron cell bodies as early as 1 month of age
• neurofilament organization is also altered in motor and sensory roots, with small motor axons affected the most
• peak axonal diameter is reduced for small motor axons before and after the onset of symptoms, whereas large motor axons are affected only after the onset of symptoms
• ectopic neurofilaments accumulate in NEFL positive cells within the ventral horn at 1 and 3 months of age and persist in 6 and 13 month old mutants
• mutants exhibit reduced motor nerve conduction velocities in the sciatic nerve

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Charcot-Marie-Tooth disease type 2E DOID:0110165 OMIM:607684

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.12
The Jackson Laboratory