|
Symbol Name ID |
Nefl
neurofilament, light polypeptide MGI:97313 |
| Darker colors indicate more annotations |
| Human Phenotypes | Facial palsy |
Decreased/absent ankle reflexes |
Dysphagia |
Optic nerve hypoplasia |
Spasticity |
Difficulty walking |
Frequent falls |
Fatigable weakness of bulbar muscles |
Fatigable weakness of swallowing muscles |
Fatigable weakness of respiratory muscles |
Decreased number of peripheral myelinated nerve fibers |
Decreased number of large peripheral myelinated nerve fibers |
Onion bulb formation |
Segmental peripheral demyelination/remyelination |
Myelin outfoldings |
Demyelinating motor neuropathy |
Demyelinating sensory neuropathy |
Mixed demyelinating and axonal polyneuropathy |
Motor neuron atrophy |
Amyotrophic lateral sclerosis |
Clusters of axonal regeneration |
Peripheral axonal neuropathy |
Cervical spinal cord atrophy |
Neurodegeneration |
Ataxia |
Gait ataxia |
Limb ataxia |
Fasciculations |
Tremor |
Hand tremor |
Head tremor |
Paralysis |
Babinski sign |
Absent brainstem auditory responses |
Abnormal motor evoked potentials |
Decreased motor nerve conduction velocity |
Decreased nerve conduction velocity |
Decreased distal sensory nerve action potential |
Dysarthria |
Language impairment |
Depression |
Emotional lability |
Anxiety |
Atypical behavior |
Agitation |
Restless legs |
Cognitive impairment |
Frontotemporal dementia |
Sleep abnormality |
Hyperreflexia |
Jaw hyperreflexia |
Areflexia |
Hyporeflexia |
Gait disturbance |
Falls |
Inability to walk |
Steppage gait |
Unsteady gait |
Waddling gait |
Global developmental delay |
Motor delay |
Peripheral neuropathy |
Sensorimotor neuropathy |
Somatic sensory dysfunction |
Impaired pain sensation |
Paresthesia |
Distal sensory impairment |
Impaired proprioception |
Impaired vibratory sensation |
Impaired distal vibration sensation |
Positive Romberg sign |
| Disease(s) Associated with NEFL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| amyotrophic lateral sclerosis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Charcot-Marie-Tooth disease dominant intermediate G | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Charcot-Marie-Tooth disease type 1F | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Charcot-Marie-Tooth disease type 2E |
| Mouse Phenotypes | abnormal pons morphology |
abnormal cerebral cortex morphology |
abnormal cerebellum morphology |
abnormal axon morphology |
abnormal dorsal root ganglion morphology |
abnormal sciatic nerve morphology |
abnormal ventral spinal root morphology |
abnormal spinal cord grey matter morphology |
nervous system inclusion bodies |
|
| Availability | Mouse Genotype | |||||||||
| Nefltm1Jpj/Nefltm1Jpj | ||||||||||
| Nefltm2.1Liem/Nefl+ | ||||||||||
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 04/30/2024 MGI 6.23 |
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