Symbol Name ID |
Rbm8a
RNA binding motif protein 8a MGI:1913129 |
Darker colors indicate more annotations |
Human Phenotypes | Delayed CNS myelination |
Cavum septum pellucidum |
Cerebellar vermis hypoplasia |
Cerebellar hypoplasia |
Spina bifida |
Syringomyelia |
Intellectual disability |
Global developmental delay |
Motor delay |
Seizure |
Disease(s) Associated with RBM8A | ||||||||||
thrombocytopenia-absent radius syndrome |
Mouse Phenotypes | abnormal radial glial cell apoptosis |
increased neuron apoptosis |
increased forebrain apoptosis |
abnormal radial glial cell morphology |
decreased radial glial cell number |
impaired neuron differentiation |
premature neuronal precursor differentiation |
increased neuronal precursor proliferation |
abnormal telencephalon development |
decreased brain size |
small brain ventricles |
abnormal cerebral cortex morphology |
decreased neocortex size |
abnormal stratification in cerebral cortex |
thin cerebral cortex |
decreased neuronal precursor cell number |
decreased neuron number |
increased neuron number |
ectopic cortical neuron |
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Availability | Mouse Genotype | |||||||||||||||||||
Emx1tm1(cre)Krj/Emx1+ Rbm8atm1Dlsi/Rbm8a+ (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 04/30/2024 MGI 6.23 |
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