Phenotypes Associated with This Genotype

Genotype
MGI:3653483

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

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

mortality/aging

premature death ( J:110579 )

♂ • mortality rates are indistinguishable from Fgf23 homozgyotes

growth/size/body

abnormal postnatal growth/weight/body size ( J:110579 )

♂ • male double mutants are identical to Fgf23^tm1Sliu homozygotes

decreased body weight ( J:110579 )

♂

decreased body length ( J:110579 )

♂ • levels are decreased by ~10-fold in double homozygotes compared to Phex-deficient mice but are the same as levels with Fgf23-deficiency alone

homeostasis/metabolism

decreased circulating parathyroid hormone level ( J:110579 )

♂ • levels are decreased by ~10-fold in double homozygotes compared to Phex-deficient mice but are the same as levels with Fgf23-deficiency alone

abnormal circulating calcium level ( J:110579 )

♂ • at 6 weeks, serum calcium in males is increased to the level found in Fgf23-deficient mice

abnormal circulating phosphate level ( J:110579 )

♂ • levels are same as male Fgf-null mice at 6 weeks

abnormal vitamin D level ( J:110579 )

♂ • male mice show a markedly elevated increase in serum 1,25(OH)₂D₃ concentrations compared to Fgf23-deficient mice at 6 weeks

skeleton

short femur ( J:110579 )

♂

abnormal long bone epiphyseal plate morphology ( J:110579 )

♂ • abnormalities resemble those seen in male Fgf23 null mice

decreased bone mineral density ( J:110579 )

♂ • bone mineral density is increased to levels similar to Fgf23-deficient mice but it is still lower than in wild-type

♂ • there is a reduction in the amount of osteoid compared to Phex-null mice

rickets ( J:110579 )

♂ • correction of rickets is observed compared to Fgf23^+/-/Phex-null mice

limbs/digits/tail

short femur ( J:110579 )

♂

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