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Symbol
Name
ID
Chmp2b
charged multivesicular body protein 2B
MGI:1916192
Phenotype annotations related to nervous system
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
Availability Mouse Genotype
Chmp2bGt(XL952)Byg/Chmp2bGt(XL952)Byg
Chmp2btm1.1Hiok/Chmp2b+

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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last database update
05/28/2024
MGI 6.13
The Jackson Laboratory