About   Help   FAQ
Phenotypes Associated with This Genotype
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
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
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
MGI 6.08
The Jackson Laboratory