Symbol Name ID |
Ofd1
OFD1, centriole and centriolar satellite protein MGI:1350328 |
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 |
Choanal atresia |
Underdeveloped nasal alae |
Wide nasal bridge |
Recurrent upper respiratory tract infections |
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 |
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Availability | Mouse Genotype | ||
Ofd1tm2.1Bfra/Ofd1+ Tg(CAG-cre)1Nagy/0 (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 05/14/2024 MGI 6.23 |
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