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Symbol
Name
ID
Ophn1
oligophrenin 1
MGI:2151070
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Spasticity
Cerebellar hypoplasia
Disorganization of the anterior cerebellar vermis
Retrocerebellar cyst
Enlarged cisterna magna
Gait ataxia
Intellectual disability
Hyperactivity
Delayed speech and language development
Global developmental delay
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 ventricles
dilated third ventricle
thin cerebral cortex
abnormal dendrite morphology
abnormal excitatory postsynaptic potential
Availability Mouse Genotype
Ophn1tm1Bill/Y
Ophn1tm2Bill/Y  (conditional)

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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Funding Information
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last database update
03/31/2020
MGI 6.15
The Jackson Laboratory