Phenotypes Associated with This Genotype

Genotype
MGI:5824131

• Allelic Composition: Cyp2r1^{tm1(KOMP)Vlcg}/Cyp2r1^{tm1(KOMP)Vlcg}
• Genetic Background: involves: C57BL/6NTac

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

homeostasis/metabolism

decreased circulating phosphate level ( J:223194 )

• serum phosphorus level is decreased slightly from 12.3 mg/dL at 3-5 weeks of age to 10.2 mg/dL on maturity and remains stable thereafter

abnormal vitamin D level ( J:223194 )

• serum 25(OH)D3 level is reduced by more than 50% at 6-14 weeks of age, as determined by RIA analysis

• at 10 weeks of age, HPLC analysis revealed that serum 25(OH)D3 values are only 5.2 ng/mL versus 19.4 ng/mL in wild-type controls

• in contrast, serum 1,25(OH)2D3 level is comparable to that in wild-type controls (51-68 pg/mL) at 5-16 weeks of age

skeleton

skeleton phenotype ( J:223194 )

N • mice do not develop rickets and show normal serum calcium levels and tibial epiphyseal plates in response to a rachitogenic high-calcium and low-phosphorus diet, consistent with a normal serum concentration of 1,25(OH)2D3