Phenotypes Associated with This Genotype

Genotype
MGI:3779061

• Allelic Composition: Phex^Hyp/?
• Genetic Background: involves: C57BL/6J

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

Growth plate mineralization in 24 day old Phex^Hyp/? mice

skeleton

enthesitis ( J:192371 )

• mutants exhibit mineralizing enthesopathy of the Achilles insertion (abnormal bony projection at the attachment of the tendon) as indicated by an expansion of type II collagen expressing mineralizing fibrochondrocytes in the Achilles tendon at 12 weeks of age leading to increased mineralization of the entheses

• treatment with oral phosphate and calcitriol does not significantly alter the hyperplasia of mineralizing fibrocartilage cells in the Achilles insertion at 12 weeks of age, however it did increase serum phosphate levels and exacerbated mineralization of the matrix surrounding the lacunae of fibrocartilage

increased width of hypertrophic chondrocyte zone ( J:99866 )

• growth plates are normal at E18.5, but by 10 days of age, expansion of the late hypertrophic chondrocyte layer is evident

abnormal fibrocartilage morphology ( J:192371 )

• increase in total fibrocartilage with age

rickets ( J:99866 )

abnormal chondrocyte physiology ( J:99866 )

• significant decrease in hypertrophic chondrocyte apoptosis compared to controls

homeostasis/metabolism

decreased circulating phosphate level ( J:99866 )

• serum phosphate levels are normal at E18.5 but by 10 days of age, significant hypophosphatemia is observed

immune system

enthesitis ( J:192371 )

• mutants exhibit mineralizing enthesopathy of the Achilles insertion (abnormal bony projection at the attachment of the tendon) as indicated by an expansion of type II collagen expressing mineralizing fibrochondrocytes in the Achilles tendon at 12 weeks of age leading to increased mineralization of the entheses

• treatment with oral phosphate and calcitriol does not significantly alter the hyperplasia of mineralizing fibrocartilage cells in the Achilles insertion at 12 weeks of age, however it did increase serum phosphate levels and exacerbated mineralization of the matrix surrounding the lacunae of fibrocartilage

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
X-linked dominant hypophosphatemic rickets		DOID:0050445	OMIM:307800	J:99866