Symbol
Name
ID

Cep120
centrosomal protein 120
MGI:2147298

Phenotype annotations related to nervous system

Darker colors indicate more annotations

Human Phenotypes	Dandy-Walker malformation	Encephalocele	Oculomotor apraxia	Ventriculomegaly	Hypoplasia of the corpus callosum	Cerebellar hypoplasia	Molar tooth sign on MRI	Truncal ataxia	Global developmental delay
Disease(s) Associated with CEP120	Dandy-Walker malformation	Encephalocele	Oculomotor apraxia	Ventriculomegaly	Hypoplasia of the corpus callosum	Cerebellar hypoplasia	Molar tooth sign on MRI	Truncal ataxia	Global developmental delay
Joubert syndrome 31
short-rib thoracic dysplasia 13 with or without polydactyly

Mouse Phenotypes

absent brain ependyma motile cilia

decreased cerebellar granule cell precursor proliferation

abnormal cerebellum development

absent cerebellar foliation

thin external granule cell layer

hydrocephaly

abnormal choroid plexus morphology

dilated brain ventricle

abnormal cerebral cortex morphology

small cerebellum

cerebellum hypoplasia

Availability

Mouse Genotype

Cep120^tm1.1Blnw/Cep120^tm1.2Blnw
Tg(Nes-cre)1Atp/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)
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