Symbol
Name
ID

Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
MGI:1098274

Phenotype annotations related to homeostasis/metabolism

Darker colors indicate more annotations

Human Phenotypes

Hypocalcemia

Hypocalcemic seizures

Hypophosphatemia

Decreased level of 1,5 anhydroglucitol in serum

Elevated circulating alkaline phosphatase concentration

Decreased resting energy expenditure

Hyperglycemia

Diabetes mellitus

Ketoacidosis

Decreased circulating calcifediol concentration

Low serum calcitriol

Generalized aminoaciduria

Elevated circulating parathyroid hormone level

Disease(s) Associated with CYP27B1

obesity

type 1 diabetes mellitus

vitamin D-dependent rickets type 1A

Mouse Phenotypes		abnormal blood homeostasis	increased circulating bilirubin level	increased circulating parathyroid hormone level	decreased circulating calcium level	decreased circulating phosphate level	increased circulating alkaline phosphatase level	increased circulating aspartate transaminase level	impaired skin barrier function	increased urine phosphate level
Availability	Mouse Genotype	abnormal blood homeostasis	increased circulating bilirubin level	increased circulating parathyroid hormone level	decreased circulating calcium level	decreased circulating phosphate level	increased circulating alkaline phosphatase level	increased circulating aspartate transaminase level	impaired skin barrier function	increased urine phosphate level
	Cyp27b1^{tm1b(EUCOMM)Hmgu}/Cyp27b1^{tm1b(EUCOMM)Hmgu}
	Cyp27b1^tm1Dgo/Cyp27b1^tm1Dgo
	Cyp27b1^tm1Star/Cyp27b1^tm1Star

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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