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Symbol
Name
ID
Gba
glucosidase, beta, acid
MGI:95665
Phenotype annotations related to nervous system
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)
Gbatm2Karl/Gbatm2Karl
Tg(KRT14-cre)8Brn/?  (conditional)

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
01/31/2023
MGI 6.22
The Jackson Laboratory