Symbol
Name
ID

Ofd1
OFD1, centriole and centriolar satellite protein
MGI:1350328

Phenotype annotations related to skeleton

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

Abnormal dental enamel morphology

Enamel hypoplasia

Clinodactyly of the 5th finger

Postaxial hand polydactyly

Broad thumb

Hand polydactyly

Preaxial hand polydactyly

Short finger

Deviation of finger

Radial deviation of finger

Short toe

Short 2nd toe

Foot polydactyly

Clinodactyly

Polydactyly

Brachydactyly

Syndactyly

Finger syndactyly

Tarsal synostosis

Abnormality of the skeletal system

Cone-shaped epiphysis

Reduced bone mineral density

Disease(s) Associated with OFD1

Joubert syndrome 10

orofaciodigital syndrome I

Simpson-Golabi-Behmel syndrome type 2

Mouse Phenotypes

decreased cranium height

abnormal humerus morphology

short humerus

short radius

short ulna

short femur

short fibula

short tibia

abnormal long bone diaphysis morphology

abnormal long bone epiphyseal plate morphology

decreased long bone epiphyseal plate size

decreased length of long bones

abnormal sternum morphology

abnormal rib morphology

abnormal bone mineralization

abnormal chondrocyte physiology

Availability

Mouse Genotype

Ofd1^tm1Bfra/Ofd1^tm1Bfra

Ofd1^tm2.1Bfra/Ofd1⁺
Tg(CAG-cre)1Nagy/0 (conditional)

Ofd1^tm2.1Bfra/Ofd1⁺
Tg(Prrx1-cre)1Cjt/0 (conditional)

Ofd1^tm2.1Bfra/Y
Tg(Prrx1-cre)1Cjt/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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