|
Symbol Name ID |
Ophn1
oligophrenin 1 MGI:2151070 |
| Darker colors indicate more annotations |
| Human Phenotypes | Spasticity |
Ventriculomegaly |
Cerebellar vermis hypoplasia |
Disorganization of the anterior cerebellar vermis |
Cerebellar hypoplasia |
Retrocerebellar cyst |
Gait ataxia |
Absent speech |
Low frustration tolerance |
Hyperactivity |
Motor stereotypy |
Self-mutilation |
Intellectual disability |
Global developmental delay |
Delayed ability to sit |
Delayed ability to walk |
Seizure |
| Disease(s) Associated with OPHN1 | |||||||||||||||||
| X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance |
| Mouse Phenotypes | hydrocephaly |
increased brain size |
dilated lateral ventricle |
dilated third ventricle |
thin cerebral cortex |
abnormal dendrite morphology |
abnormal excitatory postsynaptic potential |
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| Availability | Mouse Genotype | |||||||
| Ophn1tm1Bill/Y | ||||||||
| Ophn1tm2Bill/Y (conditional) | ||||||||
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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