Symbol Name ID |
Glb1
galactosidase, beta 1 MGI:88151 |
Darker colors indicate more annotations |
Human Phenotypes | Dysphagia |
Spasticity |
Spastic tetraplegia |
Abnormality of the nervous system |
Ventriculomegaly |
T2 hypointense basal ganglia |
Thin corpus callosum |
Diffuse white matter abnormalities |
Cerebral atrophy |
Diffuse cerebral atrophy |
Cerebral degeneration |
Cervical myelopathy |
Ataxia |
Slurred speech |
Exaggerated startle response |
Myoclonus |
Delayed speech and language development |
Dysarthria |
Progressive psychomotor deterioration |
Intellectual disability |
Intellectual disability, mild |
Hyperreflexia |
Dystonia |
Gait disturbance |
Developmental regression |
Motor regression |
Developmental stagnation |
Global developmental delay |
Seizure |
Generalized myoclonic seizure |
Disease(s) Associated with GLB1 | ||||||||||||||||||||||||||||||
GM1 gangliosidosis type 1 | ||||||||||||||||||||||||||||||
GM1 gangliosidosis type 2 | ||||||||||||||||||||||||||||||
GM1 gangliosidosis type 3 | ||||||||||||||||||||||||||||||
mucopolysaccharidosis type IVB |
Mouse Phenotypes | abnormal brain morphology |
abnormal brainstem morphology |
abnormal cerebellum morphology |
Purkinje cell degeneration |
gliosis |
abnormal neuron morphology |
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Availability | Mouse Genotype | ||||||
Glb1tm1Adz/Glb1tm1Adz | |||||||
Glb1tm1Jmat/Glb1tm1Jmat |
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 06/12/2024 MGI 6.13 |
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