Symbol Name ID |
Pura
purine rich element binding protein A MGI:103079 |
Darker colors indicate more annotations |
Human Phenotypes | CNS hypomyelination |
Delayed CNS myelination |
Myoclonus |
Absent speech |
Intellectual disability |
Broad-based gait |
Inability to walk |
Global developmental delay |
Seizure |
Disease(s) Associated with PURA | |||||||||
autosomal dominant intellectual developmental disorder 31 |
Mouse Phenotypes | seizures |
abnormal neuron proliferation |
decreased neuronal precursor proliferation |
abnormal cerebellum development |
abnormal cerebellum external granule cell layer morphology |
increased brain weight |
increased brain size |
abnormal brain white matter morphology |
abnormal hippocampus morphology |
abnormal dentate gyrus morphology |
abnormal hippocampus stratum lacunosum morphology |
abnormal cerebellum morphology |
abnormal cerebellar cortex morphology |
decreased Purkinje cell number |
decreased Purkinje cell size |
abnormal cerebellar granule layer morphology |
decreased cerebellar granule cell number |
abnormal cerebellar molecular layer |
cerebellum hypoplasia |
decreased CNS synapse formation |
abnormal nervous system tract morphology |
abnormal axon morphology |
decreased neuron number |
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Availability | Mouse Genotype | |||||||||||||||||||||||
Puratm1Herm/Puratm1Herm | ||||||||||||||||||||||||
Puratm1Kkh/Puratm1Kkh | ||||||||||||||||||||||||
Puratm1Herm/Pura+ | ||||||||||||||||||||||||
Puratm1Kkh/Pura+ |
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 09/03/2024 MGI 6.24 |
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