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Symbol
Name
ID
Cdk5rap2
CDK5 regulatory subunit associated protein 2
MGI:2384875
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Microcephaly
Primary microcephaly
Simplified gyral pattern
Small cerebral cortex
Partial agenesis of the corpus callosum
Cognitive impairment
Intellectual disability
Intellectual disability, moderate
Global developmental delay
Mild global developmental delay
Disease(s) Associated with CDK5RAP2
primary autosomal recessive microcephaly 3
Seckel syndrome

Mouse Phenotypes
increased neuron apoptosis
abnormal neuron proliferation
abnormal forebrain development
decreased brain size
enlarged brain ventricles
small hippocampus
abnormal cerebral cortex morphology
loss of cortex neurons
thin cerebral cortex
small olfactory bulb
abnormal embryonic/fetal subventricular zone morphology
Availability Mouse Genotype
Cdk5rap2an/Cdk5rap2an

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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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory