Symbol Name ID |
Nefh
neurofilament, heavy polypeptide MGI:97309 |
* | Aspects of the system are reported to show a normal phenotype. |
Darker colors indicate more annotations |
Human Phenotypes | Dysphagia |
Pseudobulbar paralysis |
Spasticity |
Frequent falls |
Fatigable weakness of bulbar muscles |
Fatigable weakness of swallowing muscles |
Fatigable weakness of respiratory muscles |
Degeneration of anterior horn cells |
Motor neuron atrophy |
Amyotrophic lateral sclerosis |
Sensory axonal neuropathy |
Degeneration of the lateral corticospinal tracts |
Neurodegeneration |
Fasciculations |
Paralysis |
Babinski sign |
Dysarthria |
Language impairment |
Depression |
Emotional lability |
Anxiety |
Atypical behavior |
Agitation |
Cognitive impairment |
Frontotemporal dementia |
Sleep abnormality |
Sleep apnea |
Hyperreflexia |
Jaw hyperreflexia |
Hyporeflexia |
Waddling gait |
Sensorimotor neuropathy |
Somatic sensory dysfunction |
Distal sensory impairment |
Impaired vibratory sensation |
Disease(s) Associated with NEFH | |||||||||||||||||||||||||||||||||||
amyotrophic lateral sclerosis | |||||||||||||||||||||||||||||||||||
amyotrophic lateral sclerosis type 1 | |||||||||||||||||||||||||||||||||||
Charcot-Marie-Tooth disease axonal type 2CC |
Mouse Phenotypes | nervous system phenotype |
abnormal neuron differentiation |
abnormal axon extension |
abnormal motor neuron morphology |
abnormal axon morphology |
abnormal sensory neuron morphology |
abnormal ventral spinal root morphology |
axon degeneration |
|
Availability | Mouse Genotype | ||||||||
Nefhtm1Dwc/Nefhtm1Dwc | |||||||||
Nefhtm1Jpj/Nefhtm1Jpj | |||||||||
Nefhtm1Ral/Nefhtm1Ral | * | ||||||||
Nefhtm2Dwc/Nefhtm2Dwc | * | ||||||||
Nefhtm1Ral/Nefh+ |
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 07/05/2024 MGI 6.24 |
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