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Symbol
Name
ID

Nefh
neurofilament, heavy polypeptide
MGI:97309

Phenotype annotations related to nervous system

*	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	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
	Nefh^tm1Dwc/Nefh^tm1Dwc
	Nefh^tm1Jpj/Nefh^tm1Jpj
	Nefh^tm1Ral/Nefh^tm1Ral	*
	Nefh^tm2Dwc/Nefh^tm2Dwc	*
	Nefh^tm1Ral/Nefh⁺

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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