Symbol
Name
ID

Pura
purine rich element binding protein A
MGI:103079

Phenotype annotations related to nervous system

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

Availability

Mouse Genotype

Pura^tm1Herm/Pura^tm1Herm

Pura^tm1Kkh/Pura^tm1Kkh

Pura^tm1Herm/Pura⁺

Pura^tm1Kkh/Pura⁺

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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