Phenotypes Associated with This Genotype

Genotype
MGI:4450917

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

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

behavior/neurological

abnormal gait ( J:79953 )

♂ • affected males display an abnormal gait due to abnormal angulation of the hips and knees

limbs/digits/tail

abnormal hindlimb morphology ( J:79953 )

♂ • affected males display bowing and shortening of the hind limbs

abnormal acetabulum morphology ( J:79953 )

♂ • medial displacement of the acetabular cavity

short hindlimb ( J:79953 )

♂

abnormal limb long bone morphology ( J:79953 )

♂ • affected males 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 (31 of 31) hemizygous males display shortened femurs in the hindlimbs

short fibula ( J:79953 )

♂

short tibia ( J:79953 )

♂

abnormal caudal vertebrae morphology ( J:79953 )

♂ • all (31 of 31) hemizygous males 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 males 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 (31 of 31) hemizygous males display shortened femurs in the hindlimbs

short fibula ( J:79953 )

♂

short tibia ( J:79953 )

♂

abnormal caudal vertebrae morphology ( J:79953 )

♂ • all (31 of 31) hemizygous males exhibit elliptical tail vertebrae

small clavicle ( J:79953 )

♂

abnormal pelvic girdle bone morphology ( J:79953 )

♂ • all (31 of 31) hemizygous males 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 hemizygous males have a shorter obturator foramen than unaffected hemizygotes and wild-type controls

abnormal rib morphology ( J:79953 )

♂ • 16 of 31 hemizygous males display rib exostoses at the costochondral junctions

exostosis ( J:79953 )

♂ • 16 of 31 hemizygous males display rib exostoses at the costochondral junctions

homeostasis/metabolism

decreased circulating phosphate level ( J:79953 )

♂ • affected hemizygous males display significantly lower serum phosphorus levels (1.41 +/- 0.18 mmol/L) than wild-type controls (2.33 +/- 0.21 mmol/L)

increased circulating alkaline phosphatase level ( J:79953 )

♂ • affected hemizygous males show significantly higher serum alkaline phosphatase levels (494 +/- 221 IU/l) than wild-type controls (156 +/- 23 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