Phenotypes Associated with This Genotype

Genotype
MGI:3512452

• Allelic Composition: Fgf23^tm1Blan/Fgf23^tm1Blan; Phex^Hyp/Y
• Genetic Background: Not Specified

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

homeostasis/metabolism

increased circulating phosphate level ( J:94041 )

♂ • higher serum phosphate levels than in hemizygous Phex mice with levels similar to Fgf23 homozygotes

limbs/digits/tail

abnormal femur morphology ( J:94041 )

♂ • longer and thinner femurs compared to compound heterozygotes and hemizygous Phex, with relatively regular appearing growth plates

decreased diameter of femur ( J:94041 )

♂

long femur ( J:94041 )

♂

skeleton

abnormal femur morphology ( J:94041 )

♂ • longer and thinner femurs compared to compound heterozygotes and hemizygous Phex, with relatively regular appearing growth plates

decreased diameter of femur ( J:94041 )

♂

long femur ( J:94041 )

♂

abnormal bone mineralization ( J:94041 )

♂ • overall bone mineralization resembled that of homozygous Fgf23 mutants, including nodular deformities in ribs and paws at 3 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal dominant hypophosphatemic rickets		DOID:0050948	OMIM:193100	J:94041