Phenotypes Associated with This Genotype

Genotype
MGI:5492341

• Allelic Composition: Phex^m1Jrt/Y
• Genetic Background: B6.129S1-Phex^M1Jrt

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

growth/size/body

decreased body weight ( J:196537 )

♂ • observed at 8 weeks of age

limbs/digits/tail

decreased diameter of femur ( J:196537 )

♂ • narrow shaft

skeleton

skeleton phenotype ( J:196537 )

♂N • osteoblasts derived from male mutant mice and grown in vitro differentiate normally in vitro, and form similar numbers of ALP colony forming units and mineralized bone colonies to controls

♂N • mutant osteoblasts are capable of mineralizing osteoid in vitro; the amount of calcium deposited is indistinguishable from controls

decreased diameter of femur ( J:196537 )

♂ • narrow shaft

abnormal long bone epiphyseal plate morphology ( J:196537 )

♂

abnormal long bone epiphyseal plate proliferative zone ( J:196537 )

♂ • expanded proliferative zone and organization

increased long bone epiphyseal plate size ( J:196537 )

♂ • strikingly enlarged growth plate in the femur; increased thickness

decreased bone mineral content ( J:196537 )

♂

decreased bone mineral density ( J:196537 )

♂

abnormal compact bone morphology ( J:196537 )

♂ • FGF23 expression is significantly increased in cortical bone

♂ • expression of matrix protein genes, including Bsp, Mepe, and Ocn, are also increased

♂ • expression is unaffected in females

abnormal osteoid morphology ( J:196537 )

♂ • osteoid seams were thicker in both the cortical and the nearly absent metaphyseal trabecular bone

osteomalacia ( J:196537 )

♂ • severe

homeostasis/metabolism

decreased circulating calcium level ( J:196537 )

♂

decreased circulating phosphate level ( J:196537 )

♂

increased circulating alkaline phosphatase level ( J:196537 )

♂

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
X-linked dominant hypophosphatemic rickets		DOID:0050445	OMIM:307800	J:196537