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Symbol
Name
ID
Ofd1
OFD1, centriole and centriolar satellite protein
MGI:1350328
Phenotype annotations related to craniofacial
Darker colors indicate more annotations
Human Phenotypes
Abnormal skull morphology
Frontal bossing
Dolichocephaly
Micrognathia
Microretrognathia
Hypoplasia of the zygomatic bone
Dandy-Walker malformation
Enlarged cisterna magna
Microcephaly
Macrocephaly
Abnormality of the face
Facial asymmetry
Alveolar ridge overgrowth
Broad alveolar ridges
Deep philtrum
Cleft upper lip
Median cleft upper lip
Lip pit
Thick vermilion border
Accessory oral frenulum
Ankyloglossia
Cleft palate
High palate
Bifid tongue
Lobulated tongue
Tongue nodules
Abnormality of the dentition
Agenesis of permanent teeth
Supernumerary tooth
Hypodontia
Abnormal dental enamel morphology
Enamel hypoplasia
Carious teeth
Odontogenic neoplasm
Open bite
Hamartoma of tongue
Underdeveloped nasal alae
Wide nasal bridge
Recurrent upper respiratory tract infections
Choanal atresia
Downslanted palpebral fissures
Epicanthus
Telecanthus
Disease(s) Associated with OFD1
Joubert syndrome 10
orofaciodigital syndrome I
Simpson-Golabi-Behmel syndrome type 2

Mouse Phenotypes
decreased cranium height
cleft palate
Availability Mouse Genotype
Ofd1tm2.1Bfra/Ofd1+
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)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory