Symbol
Name
ID

Gba1
glucosylceramidase beta 1
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

Anorexia

Dysphagia

Oculomotor apraxia

Spasticity

Spastic paraparesis

Spastic paraplegia

Opisthotonus

Frequent falls

Gliosis

Substantia nigra gliosis

Hydrocephalus

Ventriculomegaly

Cerebral cortical atrophy

Hypoplasia of the corpus callosum

Cerebral atrophy

Lewy bodies

Spinal cord compression

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

Abnormality of speech or vocalization

Monotonic speech

Dysarthria

Depression

Low frustration tolerance

Delusion

Anxiety

Panic attack

Schizophrenia

Hallucinations

Visual hallucination

Apathy

Reduced social reciprocity

Personality changes

Abnormal temper tantrums

Impulsivity

Agitation

Restless legs

Cognitive impairment

Mental deterioration

Dementia

Frontal lobe dementia

Progressive neurologic deterioration

Short attention span

Intellectual disability

Micrographia

Fluctuations in consciousness

Sleep abnormality

Insomnia

Abnormality of movement

Hyperreflexia

Hyporeflexia

Akinesia

Hypokinesia

Dyskinesia

Dystonia

Gait disturbance

Broad-based gait

Gait imbalance

Shuffling gait

Short stepped shuffling gait

Postural instability

Bulbar signs

Encephalopathy

Headache

Developmental regression

Global developmental delay

Motor delay

Sensorimotor neuropathy

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 I

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

Gba1^tm1.1Eginn/Gba1^tm1.1Eginn

Gba1^tm2.1Eginn/Gba1^tm2.1Eginn

Gba1^tm3Ggb/Gba1^tm3Ggb

Gba1^tm1Karl/Gba1^tm1Karl
Tg(Nes-cre)1Kln/? (conditional)

Gba1^tm2Karl/Gba1^tm2Karl
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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