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Symbol
Name
ID 		Vdr
vitamin D (1,25-dihydroxyvitamin D3) receptor
MGI:103076
Phenotype annotations related to skeleton
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Frontal bossing
Flat occiput
Widely patent fontanelles and sutures
Enamel hypoplasia
Bowing of the legs
Femoral bowing
Fibular bowing
Tibial bowing
Interphalangeal joint erosions
Swan neck-like deformities of the fingers
Metaphyseal irregularity
Subperiosteal bone resorption
Enlargement of the ankles
Enlargement of the wrists
Joint swelling
Joint stiffness
Bone pain
Recurrent fractures
Delayed epiphyseal ossification
Bulging epiphyses
Bulging of the costochondral junction
Deformed rib cage
Osteoporosis
Rickets
Thin bony cortex
Sparse bone trabeculae
Arthritis
Gout
Rheumatoid arthritis
Polyarticular arthritis
Digital flexor tenosynovitis
Disease(s) Associated with VDR
Behcet's disease
coronary artery disease
primary biliary cholangitis
rheumatoid arthritis
vitamin D-dependent rickets type 2A

Mouse Phenotypes
skeleton phenotype
abnormal osteoclast differentiation
decreased osteoclast cell number
abnormal femur morphology
short femur
abnormal fibula morphology
abnormal tibia morphology
short tibia
abnormal limb bone morphology
abnormal long bone hypertrophic chondrocyte zone
increased width of hypertrophic chondrocyte zone
disorganized long bone epiphyseal plate
increased long bone epiphyseal plate size
abnormal long bone metaphysis morphology
abnormal bone structure
decreased bone mineral density of femur
decreased bone mineral density
increased bone mineral density
increased trabecular bone volume
decreased compact bone thickness
increased osteoblast cell number
abnormal trabecular bone morphology
increased bone mass
abnormal chondrocyte morphology
increased osteoid volume
abnormal bone ossification
abnormal bone mineralization
rickets
delayed endochondral bone ossification
decreased bone resorption
Availability Mouse Genotype
Vdrtm1.1Gcm/Vdrtm1.1Gcm
Vdrtm1Mbd/Vdrtm1Mbd
Vdrtm1Rge/Vdrtm1Rge
Vdrtm1Ska/Vdrtm1Ska
Vdrtm1Tyam/Vdrtm1Tyam
Vdrtm2.1Ska/Vdrtm2.1Ska
Vdrtm1Mbd/Vdr+
Vdrtm2.1Ska/Vdr+
Vdrtm1Gcm/Vdrtm1Gcm
Tg(Col2a1-cre)1Bhr/?  (conditional)
Tg(Col1a1-cre)1Kry/0
Vdrtm2Ska/Vdrtm2Ska  (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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Send questions and comments to User Support. 		last database update
04/16/2024
MGI 6.23 		The Jackson Laboratory