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Symbol Name ID |
Pdcd6ip
programmed cell death 6 interacting protein MGI:1333753 |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Ventriculomegaly |
Pachygyria |
Hypoplasia of the frontal lobes |
Agenesis of corpus callosum |
Gray matter heterotopia |
Intellectual disability, severe |
Hyperreflexia |
Global developmental delay |
| Disease(s) Associated with PDCD6IP | |||||||||
| primary autosomal recessive microcephaly |
| Mouse Phenotypes | abnormal brain ependyma motile cilium morphology |
abnormal brain ependyma motile cilium location or orientation |
abnormal brain ependyma motile cilium physiology |
abnormal brain morphology |
hydrocephaly |
decreased brain weight |
decreased brain size |
abnormal brain ependyma morphology |
enlarged lateral ventricles |
abnormal choroid plexus morphology |
small hippocampus |
thin cerebral cortex |
astrocytosis |
abnormal cerebrospinal fluid flow |
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| Availability | Mouse Genotype | ||||||||||||||
| Pdcd6ipem1(IMPC)Mbp/Pdcd6ipem1(IMPC)Mbp | |||||||||||||||
| Pdcd6iptm1.2Adz/Pdcd6iptm1.2Adz | |||||||||||||||
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 04/23/2024 MGI 6.23 |
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