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Phenotypes Associated with This Genotype
Genotype
MGI:3045592
Allelic
Composition
Cyp27b1tm1Star/Cyp27b1tm1Star
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cyp27b1tm1Star mutation (0 available); any Cyp27b1 mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands
• homozygotes display enlarged parathyroid glands (8 weeks), and secondary hyperparathyroidism

growth/size/body
• homozygotes display a decrease in femur length at 8 weeks
• homozygotes are viable and phenotypically normal at birth but fail to thrive
• homozygotes display a decrease in weight gain from 3-8 weeks of age

homeostasis/metabolism
• at 3 weeks, homozygotes show lack of detectable 1,25(OH)2D3 levels
• at 8 weeks, homozygotes display elevated levels of 25(OH)D3 and very low circulating levels of 24,25(OH)2D3
• homozygotes display increased PTH blood levels as early as weaning
• at 3 weeks of age, homozygotes display hypocalcemia (J:71928)
• supplementation with 1,25(OH)2D3 normalizes the plasma Ca2+ concentration (J:78635)
• the expression of renal Ca2+ transport proteins is significantly down-regulated in agreement with a diminished Ca2+ reabsorption capacity (J:78635)
• high dietary Ca2+ intake restores the expression of renal Ca2+ transport proteins independent of 1,25(OH)2D3 and normalizes serum Ca2+ concentration (J:78635)
• young homozygotes exhibit marked hypophosphatemia which tends towards normal levels at later stages
• homozygotes display elevated serum alkaline phosphatase

skeleton
• homozygotes have expanded growth plates with disorganized cartilage layers
• homozygotes have expanded growth plates with disorganized cartilage layers
• contact radiography of femurs revealed rachitic metaphyseal alterations
• contact radiography of femurs revealed diffuse osteopenia (hypomineralization)
• high dietary Ca2+ intake does not completely correct bone growth but cures the rickets and osteomalacia and corrects the biomechanical properties of bone tissue (J:90983)
• chronic treatment with 1,25(OH)2D3 is more effective than the high-calcium rescue diet and corrects all aspects of the mutant phenotype (J:90984)
• homozygotes display osteoid (unmineralized matrix) accumulation in trabecular bone due to impaired mineralization
• homozygotes display bone anomalies including rickets and osteomalacia

integument
N
• consistent with symptoms of pseudovitamin D deficiency rickets, homozygotes display no alopecia (J:71928)
• homozygotes do not exhibit alopecia (J:71937)


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory