|
Symbol Name ID |
Tubb3
tubulin, beta 3 class III MGI:107813 |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Primary microcephaly |
Facial palsy |
Torticollis |
Optic nerve hypoplasia |
Oculomotor apraxia |
Spasticity |
Spastic diplegia |
Spastic tetraplegia |
Peripheral axonal neuropathy |
Hypoplasia of the brainstem |
Lateral ventricle dilatation |
Normal pressure hydrocephalus |
Lissencephaly |
Type II lissencephaly |
Polymicrogyria |
Frontal polymicrogyria |
Simplified gyral pattern |
Cortical dysplasia |
Abnormal basal ganglia morphology |
Fusion of the caudate and putamen |
Dysgenesis of the basal ganglia |
Large basal ganglia |
Small basal ganglia |
Thin corpus callosum |
Agenesis of corpus callosum |
Partial agenesis of the corpus callosum |
Hypoplasia of the corpus callosum |
Agenesis of the anterior commissure |
Hypoplastic anterior commissure |
Dysgenesis of the hippocampus |
Hypoplasia of the olfactory bulb |
Abnormal thalamus morphology |
Abnormal cerebellar vermis morphology |
Cerebellar vermis hypoplasia |
Cerebellar hypoplasia |
Spastic ataxia |
Delayed speech and language development |
Expressive language delay |
Dysarthria |
Poor speech |
Emotional lability |
Delayed early-childhood social milestone development |
Reduced social reciprocity |
Motor stereotypy |
Short attention span |
Intellectual disability |
Insomnia |
Grasp reflex |
Dystonia |
Inability to walk |
Global developmental delay |
Severe global developmental delay |
Delayed fine motor development |
Delayed gross motor development |
Delayed ability to sit |
Specific learning disability |
Seizure |
Focal-onset seizure |
Abnormal autonomic nervous system physiology |
| Disease(s) Associated with TUBB3 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| complex cortical dysplasia with other brain malformations 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| congenital fibrosis of the extraocular muscles 3A |
| Mouse Phenotypes | abnormal axon guidance |
abnormal brain commissure morphology |
abnormal corpus callosum morphology |
absent corpus callosum |
abnormal anterior commissure morphology |
abnormal basal ganglion morphology |
abnormal cranial nerve morphology |
abnormal oculomotor nerve morphology |
abnormal trigeminal nerve morphology |
abnormal trochlear nerve morphology |
|
| Availability | Mouse Genotype | ||||||||||
| Tubb3tm1.1Ece/Tubb3tm1.1Ece | |||||||||||
| Tubb3tm1.1Ece/Tubb3+ | |||||||||||
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 04/23/2024 MGI 6.23 |
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