Phenotypes Associated with This Genotype

Genotype
MGI:4450916

• Allelic Composition: Phex^Ska1/Phex⁺
• Genetic Background: C57BL/6-Phex^Ska1

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

behavior/neurological

abnormal gait ( J:79953 )

♀ • affected females display an abnormal gait due to abnormal angulation of the hips and knees

limbs/digits/tail

abnormal acetabulum morphology ( J:79953 )

♀ • medial displacement of the acetabular cavity

short hindlimb ( J:79953 )

♀ • affected females have shortened hindlimbs

abnormal limb long bone morphology ( J:79953 )

♀ • affected females display shortening and bowing of the long bones in the hindlimbs

short humerus ( J:79953 )

♀

short radius ( J:79953 )

♀

short ulna ( J:79953 )

♀

short femur ( J:79953 )

♀ • all (71 of 71) heterozygous females display shortened femurs in the hindlimbs

short fibula ( J:79953 )

♀

short tibia ( J:79953 )

♀

abnormal caudal vertebrae morphology ( J:79953 )

♀ • all (71 of 71) heterozygous females exhibit elliptical tail vertebrae

skeleton

abnormal skeleton morphology ( J:79953 )

♀ • most bone measurements are significantly shorter than in wild-type controls; only the mandible length is not significantly shorter

abnormal limb long bone morphology ( J:79953 )

♀ • affected females display shortening and bowing of the long bones in the hindlimbs

short humerus ( J:79953 )

♀

short radius ( J:79953 )

♀

short ulna ( J:79953 )

♀

short femur ( J:79953 )

♀ • all (71 of 71) heterozygous females display shortened femurs in the hindlimbs

short fibula ( J:79953 )

♀

short tibia ( J:79953 )

♀

abnormal caudal vertebrae morphology ( J:79953 )

♀ • all (71 of 71) heterozygous females exhibit elliptical tail vertebrae

small clavicle ( J:79953 )

♀

abnormal pelvic girdle bone morphology ( J:79953 )

♀ • all (71 of 71) heterozygous females display a smaller pelvis with medial displacement of the acetabular cavity

abnormal acetabulum morphology ( J:79953 )

♀ • medial displacement of the acetabular cavity

abnormal obturator foramen morphology ( J:79953 )

♀ • affected female heterozygotes have a shorter obturator foramen than wild-type controls

abnormal rib morphology ( J:79953 )

♀ • 22 of 71 heterozygous females display rib exostoses at the costochondral junctions

decreased bone mineral density ( J:79953 )

♀ • affected females show reduced bone density in the pelvic bones

decreased bone mineral density of femur ( J:79953 )

♀ • affected females show reduced bone density in shaft of the proximal femur

decreased compact bone thickness ( J:79953 )

♀ • affected females exhibit cortical thinning

exostosis ( J:79953 )

♀ • 22 of 71 heterozygous females display rib exostoses at the costochondral junctions

homeostasis/metabolism

decreased circulating phosphate level ( J:79953 )

♀ • affected heterozygous females exhibit significantly lower serum phosphorus levels (1.15 +/- 0.22 mmol/L) than wild-type controls (2.47 +/- 0.05 mmol/L)

increased circulating alkaline phosphatase level ( J:79953 )

♀ • affected heterozygous females exhibit significantly higher serum alkaline phosphatase levels (338 +/- 61 IU/l) than wild-type controls (192 +/- 15 IU/l)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
X-linked dominant hypophosphatemic rickets		DOID:0050445	OMIM:307800	J:79953