Phenotypes Associated with This Genotype

Genotype
MGI:3653482

• Allelic Composition: Fgf23^tm1Sliu/Fgf23⁺; Phex^Hyp/Y
• Genetic Background: involves: 129S/SvEv * C57BL/6

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

homeostasis/metabolism

decreased circulating phosphate level ( J:110579 )

♂ • levels are similar to those in Phex-deficient mice

abnormal vitamin D level ( J:110579 )

♂ • male mice show a ~3-fold increase in serum 1,25(OH)₂D₃ compared to Phex-null mice

skeleton

long femur ( J:110579 )

♂ • femur length is increased over Phex homozygotes

increased bone mineral density ( J:110579 )

♂ • male mice display a small but significant increase in bone mineral density compared to Phex-null mice

rickets ( J:110579 )

♂

limbs/digits/tail

long femur ( J:110579 )

♂ • femur length is increased over Phex homozygotes

growth/size/body

decreased body weight ( J:110579 )

♂ • male mice have lower body weight than wild-type but it is increased over Phex homozygotes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
X-linked dominant hypophosphatemic rickets		DOID:0050445	OMIM:307800	J:110579