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Symbol Name ID |
Ccdc88c
coiled-coil domain containing 88C MGI:1915589 |
| Darker colors indicate more annotations |
| Human Phenotypes | Dandy-Walker malformation |
Posterior fossa cyst |
Microcephaly |
Ankle clonus |
Spasticity |
Spastic paraparesis |
Spastic paraplegia |
Pontocerebellar atrophy |
Colpocephaly |
Aqueductal stenosis |
Hydrocephalus |
Communicating hydrocephalus |
Ventriculomegaly |
Abnormal cortical gyration |
Lissencephaly |
Simplified gyral pattern |
Small cerebral cortex |
Agenesis of corpus callosum |
Absent septum pellucidum |
Cerebellar vermis hypoplasia |
Holoprosencephaly |
Corticospinal tract hypoplasia |
Gray matter heterotopia |
Ataxia |
Dysdiadochokinesis |
Dysmetria |
Gait ataxia |
Tremor |
Intention tremor |
Hemiplegia/hemiparesis |
Increased intracranial pressure |
Dysarthria |
Scanning speech |
Intellectual disability |
Intellectual disability, severe |
Hyperreflexia |
Broad-based gait |
Unsteady gait |
Motor delay |
Seizure |
| Disease(s) Associated with CCDC88C | ||||||||||||||||||||||||||||||||||||||||
| hydrocephalus | ||||||||||||||||||||||||||||||||||||||||
| spinocerebellar ataxia type 40 |
| Mouse Phenotypes | abnormal brain ependyma motile cilium location or orientation |
abnormal brain ependyma morphology |
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| Availability | Mouse Genotype | ||
| Ccdc88ctm1(KOMP)Mbp/Ccdc88ctm1(KOMP)Mbp | |||
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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