Phenotypes associated with this allele

• Allele Symbol: Cyp2r1^{tm1(KOMP)Vlcg}
• Allele Name: targeted mutation 1, Velocigene
• Allele ID: MGI:3808340
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cyp2r1^tm1(KOMP)Vlcg/Cyp2r1^tm1(KOMP)Vlcg	involves: C57BL/6NTac	MGI:5824131
ht2	Cyp2r1^tm1(KOMP)Vlcg/Cyp2r1^+	involves: C57BL/6NTac	MGI:5824132
cx3	Cyp27a1^tm1Elt/Cyp27a1^tm1Elt Cyp2r1^tm1(KOMP)Vlcg/Cyp2r1^tm1(KOMP)Vlcg	involves: C57BL/6J * C57BL/6N * C57BL/6NTac	MGI:5824136

Genotype
MGI:5824131

hm1

• 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

Genotype
MGI:5824132

ht2

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

homeostasis/metabolism

abnormal vitamin D level ( J:223194 )

• serum 25(OH)D3 level shows an intermediate reduction at 6-10 weeks but appears to catch up to wild-type levels at 14 weeks of age

Genotype
MGI:5824136

cx3

• Allelic Composition: Cyp27a1^tm1Elt/Cyp27a1^tm1Elt; Cyp2r1^{tm1(KOMP)Vlcg}/Cyp2r1^{tm1(KOMP)Vlcg}
• Genetic Background: involves: C57BL/6J * C57BL/6N * C57BL/6NTac

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, similar to single Cyp2r1^{tm1(KOMP)Vlcg} homozygotes

• at 10 weeks of age, HPLC analysis revealed that serum 25(OH)D3 values are 5.9 ng/mL versus 5.2 ng/mL in single Cyp2r1^{tm1(KOMP)Vlcg} homozygotes and 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

liver/biliary system

enlarged liver ( J:223194 )

• livers are enlarged by ~35%

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

growth/size/body

enlarged liver ( J:223194 )

• livers are enlarged by ~35%