|
Symbol Name ID |
Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1 MGI:1098274 |
| 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 |
Metaphyseal irregularity |
Subperiosteal bone resorption |
Enlargement of the ankles |
Enlargement of the wrists |
Bone pain |
Recurrent fractures |
Delayed epiphyseal ossification |
Bulging epiphyses |
Bulging of the costochondral junction |
Enlargement of the costochondral junction |
Deformed rib cage |
Rickets |
Thin bony cortex |
Sparse bone trabeculae |
| Disease(s) Associated with CYP27B1 | ||||||||||||||||||||||
| vitamin D-dependent rickets type 1A |
| Mouse Phenotypes | abnormal cranium morphology |
decreased osteoclast cell number |
abnormal humerus morphology |
abnormal radius morphology |
abnormal ulna morphology |
abnormal femur morphology |
abnormal fibula morphology |
abnormal tibia morphology |
short tibia |
abnormal clavicle morphology |
disorganized long bone epiphyseal plate |
increased long bone epiphyseal plate size |
thickened long bone epiphysis |
abnormal long bone metaphysis morphology |
abnormal scapula morphology |
abnormal pelvic girdle bone morphology |
abnormal rib morphology |
abnormal vertebrae morphology |
abnormal bone structure |
decreased bone mineral content |
decreased bone mineral density of femur |
decreased bone mineral density |
abnormal joint morphology |
abnormal bone mineralization |
decreased bone mineralization |
osteomalacia |
rickets |
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| Availability | Mouse Genotype | |||||||||||||||||||||||||||
| Cyp27b1tm1.1Star/Cyp27b1tm1.1Star | ||||||||||||||||||||||||||||
| Cyp27b1tm1b(EUCOMM)Hmgu/Cyp27b1tm1b(EUCOMM)Hmgu | ||||||||||||||||||||||||||||
| Cyp27b1tm1Dgo/Cyp27b1tm1Dgo | ||||||||||||||||||||||||||||
| Cyp27b1tm1Hfd/Cyp27b1tm1Hfd | ||||||||||||||||||||||||||||
| Cyp27b1tm1Star/Cyp27b1tm1Star | ||||||||||||||||||||||||||||
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 04/30/2024 MGI 6.23 |
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