Symbol Name ID |
Tubb4a
tubulin, beta 4A class IVA MGI:107848 |
Darker colors indicate more annotations |
Human Phenotypes | Microcephaly |
Blepharospasm |
Torticollis |
Dysphagia |
Oculomotor apraxia |
Spasticity |
Cerebral hypomyelination |
Leukodystrophy |
Cerebellar atrophy |
Ataxia |
Dysdiadochokinesis |
Gait ataxia |
Choreoathetosis |
Involuntary movements |
Tremor |
Upper limb postural tremor |
Delayed speech and language development |
Dysarthria |
Poor speech |
Dementia |
Intellectual disability |
Dystonia |
Laryngeal dystonia |
Generalized dystonia |
Hemidystonia |
Limb dystonia |
Torsion dystonia |
Gait disturbance |
Developmental regression |
Motor delay |
Specific learning disability |
Seizure |
Disease(s) Associated with TUBB4A | ||||||||||||||||||||||||||||||||
hypomyelinating leukodystrophy 6 | ||||||||||||||||||||||||||||||||
torsion dystonia 4 |
Mouse Phenotypes | increased neuron apoptosis |
abnormal brain development |
abnormal cerebellum morphology |
abnormal cerebellar granule layer morphology |
abnormal cerebellar granule cell morphology |
thin cerebellar granule layer |
thin cerebellar molecular layer |
cerebellum atrophy |
astrocytosis |
decreased oligodendrocyte number |
abnormal nervous system tract morphology |
abnormal axon morphology |
decreased myelin sheath thickness |
neuron degeneration |
axon degeneration |
abnormal oligodendrocyte physiology |
abnormal myelination |
demyelination |
dysmyelination |
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Availability | Mouse Genotype | |||||||||||||||||||
Tubb4aem1Avan/Tubb4aem1Avan | ||||||||||||||||||||
Tubb4aJit/Tubb4aJit | ||||||||||||||||||||
Tubb4aem1Avan/Tubb4a+ | ||||||||||||||||||||
Tubb4aJit/Tubb4a+ | ||||||||||||||||||||
Tubb4aJit/Tubb4atm1(KOMP)Wtsi | ||||||||||||||||||||
Ifi208Tg(Cspg4-cre)1Akik/Ifi208+ Tubb4aJit/Tubb4atm1c(EUCOMM)Hmgu (conditional) |
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Tubb4aJit/Tubb4atm1c(EUCOMM)Hmgu Tg(Atoh1-cre)1Bfri/0 (conditional) |
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 05/14/2024 MGI 6.23 |
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