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Symbol
Name
ID 		Vdr
vitamin D (1,25-dihydroxyvitamin D3) receptor
MGI:103076
Phenotype annotations related to homeostasis/metabolism
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Increased circulating IgA level
Increased circulating IgM level
Abnormality of metabolism/homeostasis
Hypocalcemic seizures
Hypophosphatemia
Conjugated hyperbilirubinemia
Abnormal circulating lipid concentration
Increased LDL cholesterol concentration
Hypercholesterolemia
Hypertriglyceridemia
Hypoalbuminemia
Elevated circulating C-reactive protein concentration
Elevated gamma-glutamyltransferase level
Elevated circulating alkaline phosphatase concentration
Decreased alpha-galactosidase A activity
Elevated erythrocyte sedimentation rate
Glucose intolerance
Diabetes mellitus
Type II diabetes mellitus
Impaired glucose tolerance
Joint swelling
Lymphedema
Fever
Food intolerance
High serum calcitriol
Elevated circulating globotriaosylceramide concentration
Urinary mulberry cells
Decreased level of D-mannose in urine
Proteinuria
Lipiduria
Elevated circulating parathyroid hormone level
Ascites
Increased circulating free T3
Increased circulating free T4 concentration
Decreased thyroid-stimulating hormone level
Disease(s) Associated with VDR
atopic dermatitis
Behcet's disease
coronary artery disease
Fabry disease
Graves' disease
polycystic ovary syndrome
primary biliary cholangitis
rheumatoid arthritis
vitamin D-dependent rickets type 2A

Mouse Phenotypes
homeostasis/metabolism phenotype
abnormal blood homeostasis
increased circulating angiotensin II level
increased circulating atrial natriuretic factor
increased circulating follicle stimulating hormone level
increased circulating luteinizing hormone level
increased circulating parathyroid hormone level
decreased circulating calcium level
decreased circulating phosphate level
increased circulating phosphate level
increased circulating angiotensinogen level
increased circulating alkaline phosphatase level
increased circulating renin level
abnormal nitric oxide homeostasis
abnormal glucose tolerance
increased urine potassium level
increased urine sodium level
abnormal vitamin D level
abnormal mineral homeostasis
abnormal interleukin level
abnormal tumor necrosis factor level
abnormal urine homeostasis
increased urine calcium level
abnormal response to vitamins
abnormal fat-soluble vitamin level
abnormal enzyme/coenzyme activity
abnormal renin activity
increased renin activity
increased susceptibility to xenobiotic induced morbidity/mortality
Availability Mouse Genotype
Vdrtm1.1Gcm/Vdrtm1.1Gcm
Vdrtm1.2Sgcg/Vdrtm1.2Sgcg
Vdrtm1Mbd/Vdrtm1Mbd
Vdrtm1Rge/Vdrtm1Rge
Vdrtm1Ska/Vdrtm1Ska
Vdrtm1Tyam/Vdrtm1Tyam
Vdrtm2.1Ska/Vdrtm2.1Ska
Vdrtm1Gcm/Vdrtm1Gcm
Tg(Col2a1-cre)1Bhr/?  (conditional)
Tg(Col1a1-cre)1Kry/0
Vdrtm2Ska/Vdrtm2Ska  (conditional)		 *
Vdrtm1.1Sgcg/Vdrtm1.2Sgcg
Myl2tm1(cre)Krc/Myl2+  (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
04/30/2024
MGI 6.23 		The Jackson Laboratory