Phenotypes Associated with This Genotype

Genotype
MGI:3653485

• Allelic Composition: Phex^Hyp/Y
• Genetic Background: Not Specified

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

growth/size/body

decreased body weight ( J:110579 )

♂ • evident at 2 weeks of age

decreased body length ( J:110579 )

♂ • evident at 2 weeks of age

homeostasis/metabolism

decreased circulating phosphate level ( J:110579 , J:131043 )

♂ • serum levels are decreased by ~40% compared to wild-type at 6 weeks (J:110579)

♂ • at 8 weeks of age (J:131043)

abnormal renal phosphate reabsorption ( J:131043 )

♂ • reduction in renal phosphate uptake at 8 weeks of age

abnormal vitamin D level ( J:110579 )

♂ • male mice show a 63% decrease in serum 1,25(OH)₂D₃ concentrations compared to wild-type at 6 weeks

renal/urinary system

abnormal renal phosphate reabsorption ( J:131043 )

♂ • reduction in renal phosphate uptake at 8 weeks of age

skeleton

abnormal long bone hypertrophic chondrocyte zone ( J:110579 )

♂ • an increase in this zone is evident

decreased length of long bones ( J:131043 )

♂

short femur ( J:131043 )

♂

decreased bone mineral density ( J:110579 )

♂ • there is about a 54% decrease in bone mineral density

abnormal osteocyte lacunocanalicular system morphology ( J:131043 )

• the inner lacunocanalicular wall is buckled and enlarged

abnormal osteocyte lacuna morphology ( J:131043 )

♂ • osteocyte lacunae are increased in size and randomly organized compared to those in control bone

abnormal bone mineralization ( J:110579 )

♂ • male mice display osteoidosis and impaired mineralization

osteomalacia ( J:131043 )

♂ • osteomalacia characterized by hyperosteoidosis and an excess of unmineralilized osteoid

rickets ( J:110579 )

♂ • male mice show age dependent growth retardation and skeletal dysplasia as a consequence of rickets

limbs/digits/tail

short femur ( J:131043 )

♂