Symbol Name ID |
Cdk5rap2
CDK5 regulatory subunit associated protein 2 MGI:2384875 |
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 |
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Availability | Mouse Genotype | |||||||||||
Cdk5rap2an/Cdk5rap2an |
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 |
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