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Phenotypes Associated with This Genotype
Genotype
MGI:5751579
Allelic
Composition
Nefltm2.1Liem/Nefl+
Genetic
Background
B6.Cg-Nefltm2.1Liem
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nefltm2.1Liem mutation (1 available); any Nefl mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• 49% of mice exhibit clasping when lifted by the tail; clasping is already seen at 1-3 months of age
• 97% of mice exhibit tremor; tremor is already seen at 1-3 months of age

nervous system
• disorganized processes and inclusions in the pons
• disorganized processes and inclusions in the cerebral cortex
• disorganized processes and inclusions in the cerebellum
• neurofilamentous aggregates in the dorsal root ganglia at 18 months of age; aggregates are composed of mutant protein
• sciatic nerves show a reduction in the number of neurofilaments, an increase in the number of microtubules and a decrease in the axonal diameters
• neurofilamentous aggregates are seen in the neuronal cell bodies in the gray matter at 18 months of age; aggregates are composed of mutant protein
• multiple neurofilamentous inclusions in the cell bodies and proximal axons of spinal cord neurons
• inclusions in the cerebellum, the cerebral cortex, and pons

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Charcot-Marie-Tooth disease type 2E DOID:0110165 OMIM:607684
J:220605


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/23/2021
MGI 6.16
The Jackson Laboratory