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Symbol
Name
ID
Ofd1
OFD1, centriole and centriolar satellite protein
MGI:1350328
Phenotype annotations related to limbs/digits/tail
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
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
Disease(s) Associated with OFD1
orofaciodigital syndrome I
Simpson-Golabi-Behmel syndrome type 2

Mouse Phenotypes
limbs/digits/tail phenotype
abnormal limb mesenchyme morphology
polydactyly
preaxial polydactyly
syndactyly
abnormal humerus morphology
short humerus
short radius
short ulna
short femur
short fibula
short tibia
abnormal limb development
short limbs
Availability Mouse Genotype
Ofd1tm1Bfra/Ofd1tm1Bfra
Ofd1tm2.1Bfra/Ofd1+
Tg(CAG-cre)1Nagy/0  (conditional)
Ofd1tm2.1Bfra/Ofd1+
Tg(Prrx1-cre)1Cjt/0  (conditional)
Ofd1tm2.1Bfra/Y
Tg(Prrx1-cre)1Cjt/0  (conditional)
Ofd1tm2.1Bfra/Y
Tg(Msx2-cre)5Rem/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
04/23/2024
MGI 6.23
The Jackson Laboratory