|
Symbol Name ID |
Gba
glucosidase, beta, acid MGI:95665 |
| Darker colors indicate more annotations |
| Human Phenotypes | Intracranial hemorrhage |
Microcephaly |
Hyposmia |
Orthostatic hypotension due to autonomic dysfunction |
Dysphagia |
Oculomotor apraxia |
Spasticity |
Spastic paraparesis |
Spastic paraplegia |
Opisthotonus |
Frequent falls |
Hydrocephalus |
Gliosis |
Substantia nigra gliosis |
Ventriculomegaly |
Cerebral cortical atrophy |
Hypoplasia of the corpus callosum |
Cerebral atrophy |
Lewy bodies |
Neuronal loss in central nervous system |
Ataxia |
Limb ataxia |
Abnormality of extrapyramidal motor function |
Bradykinesia |
Parkinsonism |
Parkinsonism with favorable response to dopaminergic medication |
Myoclonus |
Tremor |
Resting tremor |
Paralysis |
Hemiplegia/hemiparesis |
Cranial nerve paralysis |
Cognitive impairment |
Mental deterioration |
Dementia |
Frontal lobe dementia |
Progressive neurologic deterioration |
Intellectual disability |
Micrographia |
Neurological speech impairment |
Dysarthria |
Fluctuations in consciousness |
Abnormality of movement |
Hyperreflexia |
Hyporeflexia |
Akinesia |
Hypokinesia |
Dyskinesia |
Dystonia |
Gait disturbance |
Broad-based gait |
Gait imbalance |
Shuffling gait |
Short stepped shuffling gait |
Postural instability |
Apathy |
Low frustration tolerance |
Impaired social interactions |
Abnormal temper tantrums |
Delusions |
Hallucinations |
Visual hallucinations |
Anxiety |
Panic attack |
Depression |
Impulsivity |
Personality changes |
Agitation |
Schizophrenia |
Short attention span |
Sleep disturbance |
Insomnia |
Restless legs |
Bulbar signs |
Encephalopathy |
Headache |
Developmental regression |
Global developmental delay |
Motor delay |
Seizure |
Bilateral tonic-clonic seizure |
Bilateral tonic-clonic seizure with generalized onset |
Generalized myoclonic seizure |
Abnormal autonomic nervous system physiology |
| Disease(s) Associated with GBA1 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gaucher's disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gaucher's disease perinatal lethal | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gaucher's disease type II | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gaucher's disease type III | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gaucher's disease type IIIC | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| late onset Parkinson's disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lewy body dementia | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parkinson's disease |
| Mouse Phenotypes | seizures |
abnormal microglial cell morphology |
abnormal brain morphology |
decreased brain size |
abnormal striatum morphology |
hippocampal neuron degeneration |
decreased cerebral cortex pyramidal cell number |
decreased Purkinje cell number |
astrocytosis |
abnormal neuron morphology |
neuron degeneration |
alpha-synuclein inclusion body |
|
| Availability | Mouse Genotype | ||||||||||||
| Gbatm1.1Eginn/Gbatm1.1Eginn | |||||||||||||
| Gbatm2.1Eginn/Gbatm2.1Eginn | |||||||||||||
| Gbatm3Ggb/Gbatm3Ggb | |||||||||||||
| Gbatm1Karl/Gbatm1Karl Tg(Nes-cre)1Kln/? (conditional) |
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| Gbatm2Karl/Gbatm2Karl Tg(KRT14-cre)8Brn/? (conditional) |
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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 01/31/2023 MGI 6.22 |
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