Symbol
Name
ID

Tubb4a
tubulin, beta 4A class IVA
MGI:107848

Phenotype annotations related to nervous system

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

Availability

Mouse Genotype

Tubb4a^em1Avan/Tubb4a^em1Avan

Tubb4a^Jit/Tubb4a^Jit

Tubb4a^em1Avan/Tubb4a⁺

Tubb4a^Jit/Tubb4a⁺

Tubb4a^Jit/Tubb4a^{tm1(KOMP)Wtsi}

Ifi208^{Tg(Cspg4-cre)1Akik}/Ifi208⁺
Tubb4a^Jit/Tubb4a^{tm1c(EUCOMM)Hmgu} (conditional)

Tubb4a^Jit/Tubb4a^{tm1c(EUCOMM)Hmgu}
Tg(Atoh1-cre)1Bfri/0 (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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