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Symbol
Name
ID

Ofd1
OFD1, centriole and centriolar satellite protein
MGI:1350328

Phenotype annotations related to nervous system

Darker colors indicate more annotations

Human Phenotypes

Dandy-Walker malformation

Microcephaly

Photophobia

Hydrocephalus

Ventriculomegaly

Abnormal cortical gyration

Agenesis of corpus callosum

Cerebral atrophy

Porencephalic cyst

Hypothalamic hamartoma

Cerebellar vermis hypoplasia

Cerebellar cyst

Molar tooth sign on MRI

Arachnoid cyst

Myelomeningocele

Gray matter heterotopia

Ataxia

Tremor

Intellectual disability

Intellectual disability, profound

Intellectual disability, severe

Hyperreflexia

Dystonia

Global developmental delay

Seizure

Disease(s) Associated with OFD1

Joubert syndrome 10

orofaciodigital syndrome I

retinitis pigmentosa

retinitis pigmentosa 23

Simpson-Golabi-Behmel syndrome type 2

Mouse Phenotypes		abnormal neuron differentiation	absent floor plate	abnormal brain morphology
Availability	Mouse Genotype	abnormal neuron differentiation	absent floor plate	abnormal brain morphology
	Ofd1^tm2.1Bfra/Ofd1⁺ Tg(CAG-cre)1Nagy/0 (conditional)
	Ofd1^tm2.1Bfra/Y Tg(CAG-cre)1Nagy/0 (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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/23/2024 MGI 6.23