Phenotypes Associated with This Genotype

Genotype
MGI:3764685

• Allelic Composition: Phex^Hyp/Phex⁺
• 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)

cellular

cellular phenotype ( J:87808 )

♀N • the gamete of origin, maternal or paternal, does not impact the serum phosphate levels

growth/size/body

abnormal postnatal growth/weight/body size ( J:88352 )

♀ • all females have a squared trunk

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

homeostasis/metabolism

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

limbs/digits/tail

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 )

♀ • there is a gene dose effect such that the length of the proximal caudal vertebrae in heterozygotes is intermediate between that of wild-type and homozygous females, although similarly thickened growth plates are found in heterozygotes, homozygotes, and hemizygotes

short tail ( J:88352 )

♀

skeleton

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 )

♀ • there is a gene dose effect such that the length of the proximal caudal vertebrae in heterozygotes is intermediate between that of wild-type and homozygous females, although similarly thickened growth plates are found in heterozygotes, homozygotes, and hemizygotes

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:88352