chmp2b Phenotypes

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Phenotypes

Gene Literature (9)

Nucleotides (179)

Interactants (34)

XB-GENEPAGE-948819

Gene Symbol: chmp2b Gene Name: charged multivesicular body protein 2B

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (58 sources): Abnormal respiratory system physiology, Aggressive behavior, Agitation, Amyotrophic lateral sclerosis, Anxiety, Apathy, Areflexia, Astrocytosis, Babinski sign, Brisk reflexes, Bulbar signs, Cerebral cortical atrophy, Degeneration of anterior horn cells, Depression, Disinhibition, Dysarthria, Dyscalculia, Dysphagia, Dyspnea, Dystonia, Emotional lability, Fasciculations, Fatigable weakness of bulbar muscles, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Frontal release signs, Frontotemporal dementia, Gait disturbance, Generalized muscle weakness, Hyperorality, Hyperreflexia, Hyporeflexia, Inappropriate behavior, Lack of insight, Laryngospasm, Loss of speech, Memory impairment, Motor stereotypy, Muscle spasm, Muscle weakness, Mutism, Myoclonus, Nausea and vomiting, Neurodegeneration, Neuronal loss in central nervous system, Orofacial dyskinesia, Pain, Paralysis, Personality changes, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Restlessness, Rigidity, Skeletal muscle atrophy, Spasticity, Urinary incontinence, Xerostomia [+]
Mouse (12 sources): abnormal PR interval, abnormal RR interval, abnormal dendritic spine morphology, abnormal heart rate, abnormal hippocampus CA1 region morphology, abnormal startle reflex, abnormal synapse morphology, abnormal uterus morphology, decreased blood urea nitrogen level, increased body length, preweaning lethality, incomplete penetrance, prolonged RR interval [+]
View all ortholog results at Monarch