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Symbol
Name
ID
Vdr
vitamin D (1,25-dihydroxyvitamin D3) receptor
MGI:103076
Phenotype annotations related to limbs/digits/tail
Darker colors indicate more annotations
Human Phenotypes
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
Foot dorsiflexor weakness
Lower limb muscle weakness
Upper limb muscle weakness
Abnormality of the hand
Enlargement of the wrists
Disease(s) Associated with VDR
amyotrophic lateral sclerosis
Fabry disease
rheumatoid arthritis
vitamin D-dependent rickets type 2A

Mouse Phenotypes
abnormal femur morphology
short femur
abnormal fibula morphology
abnormal tibia morphology
short tibia
abnormal limb bone morphology
Availability Mouse Genotype
Vdrtm1Mbd/Vdrtm1Mbd
Vdrtm1Ska/Vdrtm1Ska
Vdrtm1Tyam/Vdrtm1Tyam

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
04/16/2024
MGI 6.23
The Jackson Laboratory