Symbol Name ID |
Chmp2b
charged multivesicular body protein 2B MGI:1916192 |
Darker colors indicate more annotations |
Human Phenotypes | Dysphagia |
Spasticity |
Fatigable weakness of bulbar muscles |
Fatigable weakness of swallowing muscles |
Fatigable weakness of respiratory muscles |
Astrocytosis |
Motor neuron atrophy |
Amyotrophic lateral sclerosis |
Cerebral cortical atrophy |
Neurodegeneration |
Neuronal loss in central nervous system |
Parkinsonism |
Fasciculations |
Myoclonus |
Paralysis |
Babinski sign |
Dysarthria |
Loss of speech |
Mutism |
Language impairment |
Depression |
Emotional lability |
Irritability |
Lack of insight |
Anxiety |
Atypical behavior |
Diminished motivation |
Apathy |
Abnormal sexual behavior |
Inappropriate behavior |
Inappropriate laughter |
Personality changes |
Polyphagia |
Aggressive behavior |
Disinhibition |
Restlessness |
Agitation |
Motor stereotypy |
Hyperorality |
Cognitive impairment |
Memory impairment |
Dementia |
Frontal lobe dementia |
Frontotemporal dementia |
Sleep abnormality |
Hyperreflexia |
Jaw hyperreflexia |
Primitive reflex |
Orofacial dyskinesia |
Dystonia |
Frontal release signs |
Gait disturbance |
Dyscalculia |
Disease(s) Associated with CHMP2B | |||||||||||||||||||||||||||||||||||||||||||||||||||||
amyotrophic lateral sclerosis | |||||||||||||||||||||||||||||||||||||||||||||||||||||
frontotemporal dementia | |||||||||||||||||||||||||||||||||||||||||||||||||||||
frontotemporal dementia and/or amyotrophic lateral sclerosis 7 |
Mouse Phenotypes | abnormal hippocampus CA1 region morphology |
abnormal cerebral cortex morphology |
abnormal primary motor cortex morphology |
abnormal frontal lobe morphology |
abnormal dendritic spine morphology |
abnormal synapse morphology |
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Availability | Mouse Genotype | ||||||
Chmp2bGt(XL952)Byg/Chmp2bGt(XL952)Byg | |||||||
Chmp2btm1.1Hiok/Chmp2b+ |
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 05/28/2024 MGI 6.13 |
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