Phenotypes Associated with This Genotype

Genotype
MGI:3764489

• Allelic Composition: Phex^Hyp/Y
• Genetic Background: B6.Cg-Phex^Hyp/J

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

Phex^Hyp/Y male or Phex^Hyp/Phex⁺ female (front) with wild type mouse (rear)

digestive/alimentary system

abnormal intestinal absorption ( J:137343 )

♂ • age related malabsorption of phosphate such that at 4 weeks of age there is decreased phosphate absorption into isolated intestinal segments, particularly in the jejunum, in both hemizygous males and heterozygous females, but this malabsorption diminishes with age and approaches normal levels by 12 weeks of age

growth/size/body

decreased body weight ( J:88352 )

♂ • all males have significantly lower body weights (~25% less than controls) and a squared trunk

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:88352 )

♂ • mean auditory brainstem response thresholds are significantly higher than controls

homeostasis/metabolism

decreased circulating calcium level ( J:88352 )

♂ • at 6 weeks of age serum Ca²⁺ are significantly decreased compared to controls

decreased circulating phosphate level ( J:87808 )

♂ • serum phosphate is significantly reduced relative to wild-type but similarity in serum phosphate levels between heterozygotes, homozygotes and hemizygotes indicates that there is not a gene dose effect

decreased circulating potassium level ( J:88352 )

♂ • at 6 weeks of age serum PO₄ levels are significantly lower than controls

limbs/digits/tail

short femur ( J:88352 )

♂

short fibula ( J:88352 )

♂ • the fibula is shortened and splayed

short tibia ( J:88352 )

♂ • the tibia is shortened and splayed

abnormal patella morphology ( J:88352 )

♂ • growth plates of the knee are thickened and irregular

short hindlimb ( J:88352 )

♂ • shortened hind limbs are seen

abnormal caudal vertebrae morphology ( J:87808 )

♂ • the overall length of the proximal caudal vertebrae is shorter, the growth plate is thicker than in wild-type controls, and there is accumulation of osteoid

small caudal vertebrae ( J:87808 )

♂

short tail ( J:88352 )

♂

skeleton

abnormal patella morphology ( J:88352 )

♂ • growth plates of the knee are thickened and irregular

abnormal caudal vertebrae morphology ( J:87808 )

♂ • the overall length of the proximal caudal vertebrae is shorter, the growth plate is thicker than in wild-type controls, and there is accumulation of osteoid

small caudal vertebrae ( J:87808 )

♂

disorganized long bone epiphyseal plate ( J:88352 )

♂ • disorganized femoral growth plates

decreased length of long bones ( J:88352 )

♂ • the long bones are shortened

short femur ( J:88352 )

♂

short fibula ( J:88352 )

♂ • the fibula is shortened and splayed

short tibia ( J:88352 )

♂ • the tibia is shortened and splayed

increased diameter of long bones ( J:88352 )

♂ • the long bones are thickened

decreased bone mineral density ( J:88352 )

♂ • between 6 and 40 weeks of age under-mineralized bone is present throughout the body

decreased bone mineralization ( J:67356 )

♂ • hypomineralization

osteomalacia ( J:87808 )

♂ • there is a significant increase in cancellous osteoid volume per bone volume, and cancellous, endocortical, and periosteal osteoid thickness

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
X-linked dominant hypophosphatemic rickets		DOID:0050445	OMIM:307800	J:38621 , J:67356 , J:88352