Description

Strain Information

Former Names C57BL/6J-PhexHyp/J    (Changed: 13-MAR-08 ) Type Congenic; Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered Mutant Mice. Mating System Heterozygote x Inbred         (Female x Male) Species laboratory mouse Generation N100F1 (10-DEC-07)

Appearance
black, reduced body size with shortened hindlimbs and tail
Related Genotype: a/a Phex^Hyp/+

black, unaffected
Related Genotype: a/a +/?

Description
Hypophosphatemia (Phex^Hyp) is an X-linked semidominant mutation that causes defects in phospate metabolism. It is allelic with the gyro mutation (Phex^Gy) but hypophosphatemia mutant mice do not circle. Hemizygous males and heterozygous females can be recognized at 20 to 30 days of age by their shortened hindlimbs and tail. They have reduced body size which persists throughout life, and skeletal changes resembling rickets. Hemizygous males are more affected than heterozygous females. Viability is normal in both sexes, but heterozygous females show better fertility than hemizygous males.

Development
Initially misnamed osteopetrotic (Op), the hypophosphatemia mutation arose spontaneously in 1968 in a C57BL/6J stock bearing the quaking mutation. The quaking mutation arose in the DBA/2J strain in 1961, and was crossed twice to the C3H strain before being crossed onto C57BL/6J. The hypophosphatemia mutation has been maintained by backcrossing heterozygous females to C57BL/6J males. In 1984 this strain reached generation N20 and in 2008 it reached generation N100.

Control Information

	Control
	Wild-type from the colony
	000664 C57BL/6J
Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Phex

005068	B6.C-PhexHyp-Duk/J
005852	BALB/c-PhexHyp-Duk/J
003905	BALB/cAnBomUrd-PhexHyp-Duk/J
003950	C57BL/6-PhexHyp-2J/J

View Strains carrying other alleles of Phex     (4 strains)

Additional Web Information

Congenic Nomenclature

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms

Hypophosphatemic Rickets, X-Linked Dominant - Models with phenotypic similarity to human disease where etiologies involve orthologs.1

1 Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

Phex^Hyp/Phex⁺

        C57BL/6J

• growth/size phenotype
• abnormal postnatal growth/weight/body size (MGI Ref ID J:88352)
  • all females have a squared trunk
• limbs/digits/tail phenotype
• abnormal hindlimb morphology (MGI Ref ID J:88352)
  • shortened hind limbs are seen
• short tail (MGI Ref ID J:88352)
• digestive/alimentary phenotype
• abnormal intestinal absorption (MGI Ref ID 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

Phex^Hyp/Y

        C57BL/6J

• growth/size phenotype
• decreased body weight (MGI Ref ID J:88352)
  • all males have significantly lower body weights (~25% less than controls) and a squared trunk
• hearing/vestibular/ear phenotype
• decreased brainstem auditory evoked potential (MGI Ref ID J:88352)
  • mean auditory brainstem response thresholds are significantly higher than controls
• homeostasis/metabolism phenotype
• decreased circulating potassium level (MGI Ref ID J:88352)
  • at 6 weeks of age serum PO₄ levels are significantly lower than controls
• hypocalcemia (MGI Ref ID J:88352)
  • at 6 weeks of age serum Ca²⁺ are significantly decreased compared to controls
• limbs/digits/tail phenotype
• abnormal hindlimb morphology (MGI Ref ID J:88352)
  • shortened hind limbs are seen
• abnormal skeleton extremities morphology (MGI Ref ID J:88352)
• abnormal patella morphology (MGI Ref ID J:88352)
  • growth plates of the knee are thickened and irregular
• decreased length of long bones (MGI Ref ID J:88352)
  • the long bones are shortened
• short femur (MGI Ref ID J:88352)
• short fibula (MGI Ref ID J:88352)
  • the fibula is shortened and splayed
• short tibia (MGI Ref ID J:88352)
  • the tibia is shortened and splayed
• increased diameter of long bones (MGI Ref ID J:88352)
  • the long bones are thickened
• short tail (MGI Ref ID J:88352)
• skeleton phenotype
• abnormal bone mineralization (MGI Ref ID J:67356)
  • hypomineralization
• abnormal skeleton extremities morphology (MGI Ref ID J:88352)
• abnormal patella morphology (MGI Ref ID J:88352)
  • growth plates of the knee are thickened and irregular
• decreased length of long bones (MGI Ref ID J:88352)
  • the long bones are shortened
• short femur (MGI Ref ID J:88352)
• short fibula (MGI Ref ID J:88352)
  • the fibula is shortened and splayed
• short tibia (MGI Ref ID J:88352)
  • the tibia is shortened and splayed
• increased diameter of long bones (MGI Ref ID J:88352)
  • the long bones are thickened
• decreased bone density (MGI Ref ID J:88352)
  • between 6 and 40 weeks of age under-mineralized bone is present throughout the body
• disorganized long bone epiphyseal plate (MGI Ref ID J:88352)
  • disorganized femoral growth plates

Phex^Hyp/Y

        B6.Cg-Phex^Hyp/J

• digestive/alimentary phenotype
• abnormal intestinal absorption (MGI Ref ID 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

Phex^Hyp/Y

        involves: C57BL/6J

• homeostasis/metabolism phenotype
• hypophosphatemia (MGI Ref ID J:99866)
  • serum phosphate levels are normal at E18.5 but by 10 days of age, significant hypophosphatemia is observed
• skeleton phenotype
• abnormal chondrocyte morphology (MGI Ref ID J:99866)
  • significant decrease in hypertrophic chondrocyte apoptosis compared to controls
• increased width of hypertrophic chondrocyte zone (MGI Ref ID J:99866)
  • growth plates are normal at E18.5, but by 10 days of age, expansion of the late hypertrophic chondrocyte layer is evident
• rickets (MGI Ref ID J:99866)

The following phenotype information may relate to a genetic background differing from this JAX^® Mice strain.

Phex^Hyp/Y

        Background Not Specified

• growth/size phenotype
• decreased body length (MGI Ref ID J:110579)
  • evident at 2 weeks of age
• decreased body weight (MGI Ref ID J:110579)
  • evident at 2 weeks of age
• homeostasis/metabolism phenotype
• abnormal fat-soluble vitamin level (MGI Ref ID J:110579)
  • male mice show a 63% decrease in serum 1,25(OH)₂D₃ concentrations compared to wild-type at 6 weeks
• hypophosphatemia (MGI Ref ID J:110579)
  • serum levels are decreased by ~40% compared to wild-type at 6 weeks
  • at 8 weeks of age
• renal/urinary system phenotype
• abnormal kidney physiology (MGI Ref ID J:131043)
  • reduction in renal phosphate uptake at 8 weeks of age
• skeleton phenotype
• abnormal bone mineralization (MGI Ref ID J:110579)
  • male mice display osteoidosis and impaired mineralization
  • osteomalacia characterized by hyperosteoidosis and an excess of unmineralilized osteoid
• rickets (MGI Ref ID J:110579)
  • male mice show age dependent growth retardation and skeletal dysplasia as a consequence of rickets
• abnormal long bone hypertrophic chondrocyte zone (MGI Ref ID J:110579)
  • an increase in this zone is evident
• abnormal osteocyte morphology (MGI Ref ID J:131043)
  • osteocyte lacunae are increased in size and randomly organized compared to those in control bone
  • the inner lacunocanalicular wall is buckled and enlarged
• decreased bone density (MGI Ref ID J:110579)
  • there is about a 54% decrease in bone mineral density
• decreased length of long bones (MGI Ref ID J:131043)
• short femur (MGI Ref ID J:131043)
• limbs/digits/tail phenotype
• decreased length of long bones (MGI Ref ID J:131043)
• short femur (MGI Ref ID J:131043)

View Research Applications

Research Applications

This mouse can be used to support research in many areas including:

Phex^Hyp related

Endocrine Deficiency Research
Bone/Bone Marrow Defects
Gastrointestinal Defects
Kidney Defects

Internal/Organ Research
Gastrointestinal Defects
Kidney Defects

Mouse/Human Gene Homologs
hypophosphatemic D-resistant rickets, X-linked

Genes & Alleles

Gene & Allele Information

Allele Symbol		PhexHyp
Allele Name		hypophosphatemia
Allele Type		Spontaneous
Common Name(s)		Hyp;
Gene Symbol and Name		Phex, phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)
Chromosome		X
Gene Common Name(s)		Gy; HPDR; HPDR1; HYP; HYP1; Hyp; PEX; XLH; gyro; hypophosphatemia;
Molecular Note		The mutation in the Hyp mouse is a deletion that includes exons 16-22 of the gene. [MGI Ref ID J:34935] [MGI Ref ID J:38621] [MGI Ref ID J:39093] [MGI Ref ID J:47232]

Genotyping

Genotyping Information

This strain will not have a genotyping protocol or one is not currently available.

Helpful Links

Optimizing PCR Protocols

References

References

Additional References

Argiro L; Desbarats M; Glorieux FH; Ecarot B. 2001. Mepe, the gene encoding a tumor-secreted protein in oncogenic hypophosphatemic osteomalacia, is expressed in bone. Genomics 74(3):342-51. [PubMed: 11414762]  [MGI Ref ID J:70223]

Azam N; Zhang MY; Wang X; Tenenhouse HS; Portale AA. 2003. Disordered regulation of renal 25-hydroxyvitamin D-1alpha-hydroxylase gene expression by phosphorus in X-linked hypophosphatemic (hyp) mice. Endocrinology 144(8):3463-8. [PubMed: 12865326]  [MGI Ref ID J:84821]

Eicher EM; Southard JL; Scriver CR; Glorieux FH. 1976. Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets. Proc Natl Acad Sci U S A 73(12):4667-71. [PubMed: 188049]  [MGI Ref ID J:5749]

Liu S; Guo R; Tu Q; Quarles LD. 2002. Overexpression of Phex in osteoblasts fails to rescue the Hyp mouse phenotype. J Biol Chem 277(5):3686-97. [PubMed: 11713245]  [MGI Ref ID J:74324]

Meyer RA Jr; Gray RW; Roos BA; Kiebzak GM. 1982. Increased plasma 1,25-dihydroxyvitamin D after low calcium challenge in X-linked hypophosphatemic mice. Endocrinology 111(1):174-7. [PubMed: 6896304]  [MGI Ref ID J:6776]

Strom TM; Francis F; Lorenz B; Boddrich A; Econs MJ; Lehrach H ; Meitinger T. 1997. Pex gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia. Hum Mol Genet 6(2):165-71. [PubMed: 9063736]  [MGI Ref ID J:38621]

Phex^Hyp related

Azam N; Zhang MY; Wang X; Tenenhouse HS; Portale AA. 2003. Disordered regulation of renal 25-hydroxyvitamin D-1alpha-hydroxylase gene expression by phosphorus in X-linked hypophosphatemic (hyp) mice. Endocrinology 144(8):3463-8. [PubMed: 12865326]  [MGI Ref ID J:84821]

Bai X; Miao D; Goltzman D; Karaplis AC. 2007. Early lethality in Hyp mice with targeted deletion of Pth gene. Endocrinology 148(10):4974-83. [PubMed: 17615144]  [MGI Ref ID J:126672]

Beamer WG; Wilson MC; DeLuca HF. 1980. Successful treatment of genetically hypophosphatemic mice by 1 alpha-hydroxyvitamin D3 but not 1,25-dihydroxyvitamin D3. Endocrinology 106(6):1949-55. [PubMed: 6892799]  [MGI Ref ID J:6306]

Beck L; Soumounou Y; Martel J; Krishnamurthy G; Gauthier C; Goodyer CG; Tenenhouse HS. 1997. Pex/PEX tissue distribution and evidence for a deletion in the 3' region of the Pex gene in X-linked hypophosphatemic mice. J Clin Invest 99(6):1200-9. [PubMed: 9077527]  [MGI Ref ID J:39093]

Brault BA; Meyer MH; Meyer RA Jr. 1988. Malabsorption of phosphate by the intestines of young X-linked hypophosphatemic mice. Calcif Tissue Int 43(5):289-93. [PubMed: 3145795]  [MGI Ref ID J:137343]

Bruns ME; Meyer RA Jr; Meyer MH. 1984. Low levels of intestinal vitamin D-dependent calcium-binding protein in juvenile X-linked hypophosphatemic mice. Endocrinology 115(4):1459-63. [PubMed: 6479099]  [MGI Ref ID J:7586]

Capparelli AW; Roh D; Dhiman JK; Jo OD; Yanagawa N. 1992. Altered proximal tubule glucose metabolism in X-linked hypophosphatemic mice. Endocrinology 130(1):328-34. [PubMed: 1309337]  [MGI Ref ID J:1785]

Carpenter TO; Gundberg CM. 1996. Osteocalcin abnormalities in Hyp mice reflect altered genetic expression and are not due to altered clearance, affinity for mineral, or ambient phosphorus levels. Endocrinology 137(12):5213-9. [PubMed: 8940337]  [MGI Ref ID J:37228]

Carpenter TO; Moltz KC; Ellis B; Andreoli M; McCarthy TL; Centrella M; Bryan D; Gundberg CM. 1998. Osteocalcin production in primary osteoblast cultures derived from normal and Hyp mice. Endocrinology 139(1):35-43. [PubMed: 9421395]  [MGI Ref ID J:44827]

Collins JF; Bulus N; Ghishan FK. 1995. Sodium-phosphate transporter adaptation to dietary phosphate deprivation in normal and hypophosphatemic mice. Am J Physiol 268(6 Pt 1):G917-24. [PubMed: 7611412]  [MGI Ref ID J:26775]

Collins JF; Ghishan FK. 1994. Molecular cloning, functional expression, tissue distribution, and in situ hybridization of the renal sodium phosphate (Na+/P(i)) transporter in the control and hypophosphatemic mouse. FASEB J 8(11):862-8. [PubMed: 8070635]  [MGI Ref ID J:19917]

Collins JF; Ghishan FK. 1996. The molecular defect in the renal sodium-phosphate transporter expression pathway of Gyro (Gy) mice is distinct from that of hypophosphatemic (Hyp) mice. FASEB J 10(7):751-9. [PubMed: 8635692]  [MGI Ref ID J:33265]

Collins JF; Scheving LA; Ghishan FK. 1995. Decreased transcription of the sodium-phosphate transporter gene in the hypophosphatemic mouse. Am J Physiol 269(3 Pt 2):F439-48. [PubMed: 7573493]  [MGI Ref ID J:28977]

Cowgill LD; Goldfarb S; Lau K; Slatopolsky E; Agus ZS. 1979. Evidence for an intrinsic renal tubular defect in mice with genetic hypophosphatemic rickets. J Clin Invest 63(6):1203-10. [PubMed: 221535]  [MGI Ref ID J:6133]

Du L; Desbarats M; Viel J; Glorieux FH; Cawthorn C; Ecarot B. 1996. cDNA cloning of the murine Pex gene implicated in X-linked hypophosphatemia and evidence for expression in bone. Genomics 36(1):22-8. [PubMed: 8812412]  [MGI Ref ID J:34935]

Ecarot B; Caverzasio J; Desbarats M; Bonjour JP; Glorieux FH. 1994. Phosphate transport by osteoblasts from X-linked hypophosphatemic mice. Am J Physiol 266(1 Pt 1):E33-8. [PubMed: 8304442]  [MGI Ref ID J:16598]

Ecarot B; Glorieux FH; Desbarats M; Travers R; Labelle L. 1992. Defective bone formation by Hyp mouse bone cells transplanted into normal mice: evidence in favor of an intrinsic osteoblast defect. J Bone Miner Res 7(2):215-20. [PubMed: 1315116]  [MGI Ref ID J:1175]

Ecarot B; Glorieux FH; Desbarats M; Travers R; Labelle L. 1995. Effect of 1,25-dihydroxyvitamin D3 treatment on bone formation by transplanted cells from normal and X-linked hypophosphatemic mice. J Bone Miner Res 10(3):424-31. [PubMed: 7785464]  [MGI Ref ID J:27809]

Eicher EM; Southard JL. 1972. Hypophosphatemia (Hyp); Chr 7 linkage. Mouse News Lett 47:36.  [MGI Ref ID J:13533]

Eicher EM; Southard JL; Scriver CR; Glorieux FH. 1976. Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets. Proc Natl Acad Sci U S A 73(12):4667-71. [PubMed: 188049]  [MGI Ref ID J:5749]

Erben RG; Mayer D; Weber K; Jonsson K; Juppner H; Lanske B. 2005. Overexpression of human PHEX under the human beta-actin promoter does not fully rescue the Hyp mouse phenotype. J Bone Miner Res 20(7):1149-60. [PubMed: 15940367]  [MGI Ref ID J:111519]

Fujiwara I; Aravindan R; Horst RL; Drezner MK. 2003. Abnormal regulation of renal 25-hydroxyvitamin D-1alpha-hydroxylase activity in X-linked hypophosphatemia: a translational or post-translational defect. J Bone Miner Res 18(3):434-42. [PubMed: 12619927]  [MGI Ref ID J:111302]

Gonzalez CD; Meyer RA Jr; Iorio RJ. 1992. Craniometric measurements of craniofacial malformations in the X-linked hypophosphatemic (Hyp) mouse on two different genetic backgrounds: C57BL/6J and B6C3H. Teratology 46(6):605-13. [PubMed: 1290161]  [MGI Ref ID J:3469]

Gundberg CM; Clough ME; Carpenter TO. 1992. Development and validation of a radioimmunoassay for mouse osteocalcin: paradoxical response in the Hyp mouse. Endocrinology 130(4):1909-15. [PubMed: 1547718]  [MGI Ref ID J:1786]

Halstead LR; Weinstein RS; Cheng SL; Rifas L; Avioli LV. 1996. Comparison of 22-oxacalcitriol and 1,25(OH)2D3 on bone metabolism in young X-linked hypophosphatemic male mice. Am J Physiol 270(1 Pt 1):E141-7. [PubMed: 8772486]  [MGI Ref ID J:31342]

Ishibashi K; Miyamoto K; Taketani Y; Morita K; Takeda E; Sasaki S; Imai M. 1998. Molecular cloning of a second human stanniocalcin homologue (STC2). Biochem Biophys Res Commun 250(2):252-8. [PubMed: 9753616]  [MGI Ref ID J:50633]

Lajeunesse D; Meyer RA Jr; Hamel L. 1996. Direct demonstration of a humorally-mediated inhibition of renal phosphate transport in the Hyp mouse. Kidney Int 50(5):1531-8. [PubMed: 8914019]  [MGI Ref ID J:128599]

Liu S; Tang W; Zhou J; Stubbs JR; Luo Q; Pi M; Quarles LD. 2006. Fibroblast growth factor 23 is a counter-regulatory phosphaturic hormone for vitamin D. J Am Soc Nephrol 17(5):1305-15. [PubMed: 16597685]  [MGI Ref ID J:135741]

Liu S; Tang W; Zhou J; Vierthaler L; Quarles LD. 2007. Distinct roles for intrinsic osteocyte abnormalities and systemic factors in regulation of FGF23 and bone mineralization in Hyp mice. Am J Physiol Endocrinol Metab 293(6):E1636-44. [PubMed: 17848631]  [MGI Ref ID J:129380]

Liu S; Zhou J; Tang W; Jiang X; Rowe DW; Quarles LD. 2006. Pathogenic role of Fgf23 in Hyp mice. Am J Physiol Endocrinol Metab 291(1):E38-49. [PubMed: 16449303]  [MGI Ref ID J:110579]

Lorenz-Depiereux B; Guido VE; Johnson KR; Zheng QY; Gagnon LH; Bauschatz JD; Davisson MT; Washburn LL; Donahue LR; Strom TM; Eicher EM. 2004. New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice. Mamm Genome 15(3):151-61. [PubMed: 15029877]  [MGI Ref ID J:88352]

Lyon MF; Jarvis SE. 1980. Relation of gyro and hypophosphataemia Mouse News Lett 62:49.  [MGI Ref ID J:13833]

Lyon MF; Scriver CR; Baker LR; Tenenhouse HS; Kronick J; Mandla S. 1986. The Gy mutation: another cause of X-linked hypophosphatemia in mouse. Proc Natl Acad Sci U S A 83(13):4899-903. [PubMed: 3460077]  [MGI Ref ID J:8335]

Mackintosh CA; Pegg AE. 2000. Effect of spermine synthase deficiency on polyamine biosynthesis and content in mice and embryonic fibroblasts, and the sensitivity of fibroblasts to 1,3-bis-(2-chloroethyl)-N-nitrosourea Biochem J 351 Pt 2:439-47. [PubMed: 11023830]  [MGI Ref ID J:65535]

Marie PJ; Travers R; Glorieux FH. 1982. Healing of bone lesions with 1,25-dihydroxyvitamin D3 in the young X-linked hypophosphatemic male mouse. Endocrinology 111(3):904-11. [PubMed: 6896684]  [MGI Ref ID J:6826]

Marks KH; Kilav R; Berman E; Naveh-Many T; Silver J. 1997. Parathyroid hormone gene expression in Hyp mice fed a low-phosphate diet. Nephrol Dial Transplant 12(8):1581-5. [PubMed: 9269633]  [MGI Ref ID J:43890]

Meyer MH; Dulde E; Meyer RA Jr. 2004. The genomic response of the mouse kidney to low-phosphate diet is altered in X-linked hypophosphatemia. Physiol Genomics 18(1):4-11. [PubMed: 15054142]  [MGI Ref ID J:106264]

Meyer MH; Meyer RA Jr; Iorio RJ. 1984. A role for the intestine in the bone disease of juvenile X-linked hypophosphatemic mice: malabsorption of calcium and reduced skeletal mineralization. Endocrinology 115(4):1464-70. [PubMed: 6090101]  [MGI Ref ID J:7587]

Meyer RA Jr. 1985. X-linked hypophosphatemia (familial or sex-linked vitamin-D-resistant rickets). X-linked hypophosphatemic (Hyp) mice. Am J Pathol 118(2):340-2. [PubMed: 2982272]  [MGI Ref ID J:7728]

Meyer RA Jr; Gray RW; Meyer MH. 1980. Abnormal vitamin D metabolism in the X-linked hypophosphatemic mouse. Endocrinology 107(5):1577-81. [PubMed: 6893581]  [MGI Ref ID J:6395]

Meyer RA Jr; Gray RW; Roos BA; Kiebzak GM. 1982. Increased plasma 1,25-dihydroxyvitamin D after low calcium challenge in X-linked hypophosphatemic mice. Endocrinology 111(1):174-7. [PubMed: 6896304]  [MGI Ref ID J:6776]

Meyer RA Jr; Henley CM; Meyer MH; Morgan PL; McDonald AG; Mills C ; Price DK. 1998. Partial deletion of both the spermine synthase gene and the Pex gene in the X-linked hypophosphatemic, gyro (Gy) mouse. Genomics 48(3):289-95. [PubMed: 9545633]  [MGI Ref ID J:47232]

Meyer RA Jr; Meyer MH; Gray RW; Bruns ME. 1995. Femoral abnormalities and vitamin D metabolism in X-linked hypophosphatemic (Hyp and Gy) mice. J Orthop Res 13(1):30-40. [PubMed: 7853101]  [MGI Ref ID J:24017]

Meyer RA Jr; Meyer MH; Morgan PL. 1996. Effects of altered diet on serum levels of 1,25-dihydroxyvitamin D and parathyroid hormone in X-linked hypophosphatemic (Hyp and Gy) mice. Bone 18(1):23-8. [PubMed: 8717533]  [MGI Ref ID J:36180]

Miao D; Bai X; Panda D; McKee M; Karaplis A; Goltzman D. 2001. Osteomalacia in hyp mice is associated with abnormal phex expression and with altered bone matrix protein expression and deposition. Endocrinology 142(2):926-39. [PubMed: 11159866]  [MGI Ref ID J:67356]

Miao D; Bai X; Panda DK; Karaplis AC; Goltzman D; McKee MD. 2004. Cartilage abnormalities are associated with abnormal Phex expression and with altered matrix protein and MMP-9 localization in Hyp mice. Bone 34(4):638-47. [PubMed: 15050894]  [MGI Ref ID J:89258]

Muller YL; Collins JF; Ghishan FK. 1998. Genetic screening for X-linked hypophosphatemic mice and ontogenic characterization of the defect in the renal sodium-phosphate transporter. Pediatr Res 44(5):633-8. [PubMed: 9803442]  [MGI Ref ID J:113172]

Murshed M; Harmey D; Millan JL; McKee MD; Karsenty G. 2005. Unique coexpression in osteoblasts of broadly expressed genes accounts for the spatial restriction of ECM mineralization to bone. Genes Dev 19(9):1093-104. [PubMed: 15833911]  [MGI Ref ID J:98452]

Nakagawa N; Ghishan FK. 1994. Low phosphate diet upregulates the renal and intestinal sodium-dependent phosphate transporter in vitamin D-resistant hypophosphatemic mice. Proc Soc Exp Biol Med 205(2):162-7. [PubMed: 8108466]  [MGI Ref ID J:18268]

Nakagawa N; Ghishan FK. 1993. Transport of phosphate by plasma membranes of the jejunum and kidney of the mouse model of hypophosphatemic vitamin D-resistant rickets. Proc Soc Exp Biol Med 203(3):328-35. [PubMed: 8390690]  [MGI Ref ID J:12792]

O'Doherty PJ; DeLuca HF; Eicher EM. 1977. Lack of effect of vitamin D and its metabolites on intestinal phosphate transport in familial hypophosphatemia of mice. Endocrinology 101(4):1325-30. [PubMed: 908280]  [MGI Ref ID J:5873]

Ogawa T; Onishi T; Hayashibara T; Sakashita S; Okawa R; Ooshima T. 2006. Dentinal defects in Hyp mice not caused by hypophosphatemia alone. Arch Oral Biol 51(1):58-63. [PubMed: 16005844]  [MGI Ref ID J:104579]

Onishi T; Ogawa T; Hayashibara T; Hoshino T; Okawa R; Ooshima T. 2005. Hyper-expression of osteocalcin mRNA in odontoblasts of Hyp mice. J Dent Res 84(1):84-8. [PubMed: 15615882]  [MGI Ref ID J:112543]

Onishi T; Umemura S; Shintani S; Ooshima T. 2008. Phex mutation causes overexpression of FGF23 in teeth. Arch Oral Biol 53(2):99-104. [PubMed: 17942069]  [MGI Ref ID J:129885]

Perwad F; Azam N; Zhang MY; Yamashita T; Tenenhouse HS; Portale AA. 2005. Dietary and serum phosphorus regulate fibroblast growth factor 23 expression and 1,25-dihydroxyvitamin D metabolism in mice. Endocrinology 146(12):5358-64. [PubMed: 16123154]  [MGI Ref ID J:129835]

Qiu ZQ; Tenenhouse HS; Scriver CR. 1993. Parental origin of mutant allele does not explain absence of gene dose in X-linked Hyp mice. Genet Res 62(1):39-43. [PubMed: 8405991]  [MGI Ref ID J:14316]

Qiu ZQ; Travers R; Rauch F; Glorieux FH; Scriver CR; Tenenhouse HS. 2004. Effect of gene dose and parental origin on bone histomorphometry in X-linked Hyp mice. Bone 34(1):134-9. [PubMed: 14751570]  [MGI Ref ID J:87808]

Rifas L; Cheng S; Halstead LR; Gupta A; Hruska KA; Avioli LV. 1997. Skeletal casein kinase activity defect in the HYP mouse. Calcif Tissue Int 61(3):256-9. [PubMed: 9262518]  [MGI Ref ID J:57350]

Rifas L; Dawson LL; Halstead LR; Roberts M; Avioli LV. 1994. Phosphate transport in osteoblasts from normal and X-linked hypophosphatemic mice. Calcif Tissue Int 54(6):505-10. [PubMed: 8082056]  [MGI Ref ID J:21167]

Rifas L; Gupta A; Hruska KA; Avioli LV. 1995. Altered osteoblast gluconeogenesis in X-linked hypophosphatemic mice is associated with a depressed intracellular pH. Calcif Tissue Int 57(1):60-3. [PubMed: 7671167]  [MGI Ref ID J:27340]

Rowe PS; Matsumoto N; Jo OD; Shih RN; Oconnor J; Roudier MP; Bain S; Liu S; Harrison J; Yanagawa N. 2006. Correction of the mineralization defect in hyp mice treated with protease inhibitors CA074 and pepstatin. Bone 39(4):773-86. [PubMed: 16762607]  [MGI Ref ID J:114085]

Roy S; Martel J; Ma S; Tenenhouse HS. 1994. Increased renal 25-hydroxyvitamin D3-24-hydroxylase messenger ribonucleic acid and immunoreactive protein in phosphate-deprived Hyp mice: a mechanism for accelerated 1,25-dihydroxyvitamin D3 catabolism in X-linked hypophosphatemic rickets. Endocrinology 134(4):1761-7. [PubMed: 8137741]  [MGI Ref ID J:17591]

Roy S; Martel J; Tenenhouse HS. 1997. Growth hormone normalizes renal 1,25-dihydroxyvitamin D3-24-hydroxylase gene expression but not Na+-phosphate cotransporter (Npt2) mRNA in phosphate-deprived Hyp mice. J Bone Miner Res 12(10):1672-80. [PubMed: 9333128]  [MGI Ref ID J:43542]

Roy S; Tenenhouse HS. 1996. Transcriptional regulation and renal localization of 1,25-dihydroxyvitamin D3-24-hydroxylase gene expression: effects of the Hyp mutation and 1,25-dihydroxyvitamin D3. Endocrinology 137(7):2938-46. [PubMed: 8770917]  [MGI Ref ID J:34267]

Sabbagh Y; Carpenter TO; Demay MB. 2005. Hypophosphatemia leads to rickets by impairing caspase-mediated apoptosis of hypertrophic chondrocytes. Proc Natl Acad Sci U S A 102(27):9637-42. [PubMed: 15976027]  [MGI Ref ID J:99866]

Scriver CR; Tenenhouse HS. 1990. Conserved loci on the X chromosome confer phosphate homeostasis in mice and humans. Genet Res 56(2-3):141-52. [PubMed: 2177024]  [MGI Ref ID J:10938]

Shetty NS; Meyer RA Jr. 1991. Craniofacial abnormalities in mice with X-linked hypophosphatemic genes (Hyp or Gy). Teratology 44(4):463-72. [PubMed: 1962291]  [MGI Ref ID J:1654]

Sitara D; Razzaque MS; Hesse M; Yoganathan S; Taguchi T; Erben RG; J Apw-Ppner H; Lanske B. 2004. Homozygous ablation of fibroblast growth factor-23 results in hyperphosphatemia and impaired skeletogenesis, and reverses hypophosphatemia in Phex-deficient mice. Matrix Biol 23(7):421-32. [PubMed: 15579309]  [MGI Ref ID J:94041]

Strom TM; Francis F; Lorenz B; Boddrich A; Econs MJ; Lehrach H ; Meitinger T. 1997. Pex gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia. Hum Mol Genet 6(2):165-71. [PubMed: 9063736]  [MGI Ref ID J:38621]

Syal A; Schiavi S; Chakravarty S; Dwarakanath V; Quigley R; Baum M. 2006. Fibroblast growth factor-23 increases mouse PGE2 production in vivo and in vitro. Am J Physiol Renal Physiol 290(2):F450-5. [PubMed: 16144964]  [MGI Ref ID J:104670]

Tenenhouse HS; Beck L. 1996. Renal Na(+)-phosphate cotransporter gene expression in X-linked Hyp and Gy mice. Kidney Int 49(4):1027-32. [PubMed: 8691720]  [MGI Ref ID J:32872]

Tenenhouse HS; Gauthier C; Martel J; Hoenderop JG; Hartog A; Meyer MH; Meyer RA Jr; Bindels RJ. 2002. Na/P(i) cotransporter ( Npt2) gene disruption increases duodenal calcium absorption and expression of epithelial calcium channels 1 and 2. Pflugers Arch 444(5):670-6. [PubMed: 12194021]  [MGI Ref ID J:106184]

Tenenhouse HS; Henry HL. 1985. Protein kinase activity and protein kinase inhibitor in mouse kidney: effect of the X-linked Hyp mutation and vitamin D status. Endocrinology 117(5):1719-26. [PubMed: 2994997]  [MGI Ref ID J:8019]

Tenenhouse HS; Martel J. 1993. Renal adaptation to phosphate deprivation: lessons from the X-linked Hyp mouse. Pediatr Nephrol 7(3):312-8. [PubMed: 8518105]  [MGI Ref ID J:14665]

Tenenhouse HS; Martel J; Biber J; Murer H. 1995. Effect of P(i) restriction on renal Na(+)-P(i) cotransporter mRNA and immunoreactive protein in X-linked Hyp mice. Am J Physiol 268(6 Pt 2):F1062-9. [PubMed: 7611447]  [MGI Ref ID J:26772]

Tenenhouse HS; Martel J; Gauthier C; Segawa H; Miyamoto K. 2003. Differential effects of Npt2a gene ablation and X-linked Hyp mutation on renal expression of Npt2c. Am J Physiol Renal Physiol 285(6):F1271-8. [PubMed: 12952859]  [MGI Ref ID J:87132]

Tenenhouse HS; Martel J; Rubin J; Harvey N. 1994. Effect of phosphate supplementation on the expression of the mutant phenotype in murine X-linked hypophosphatemic rickets. Bone 15(6):677-83. [PubMed: 7873297]  [MGI Ref ID J:21275]

Tenenhouse HS; Meyer RA Jr; Mandla S; Meyer MH; Gray RW. 1992. Renal phosphate transport and vitamin D metabolism in X-linked hypophosphatemic Gy mice: responses to phosphate deprivation. Endocrinology 131(1):51-6. [PubMed: 1612032]  [MGI Ref ID J:1824]

Tenenhouse HS; Scriver CR. 1978. The defect in transcellular transport of phosphate in the nephron is located in brush-border membranes in X-linked hypophosphatemia (Hyp mouse model). Can J Biochem 56(6):640-6. [PubMed: 566613]  [MGI Ref ID J:6002]

Tenenhouse HS; Werner A; Biber J; Ma S; Martel J; Roy S; Murer H. 1994. Renal Na(+)-phosphate cotransport in murine X-linked hypophosphatemic rickets. Molecular characterization. J Clin Invest 93(2):671-6. [PubMed: 8113402]  [MGI Ref ID J:16850]

Thompson DL; Sabbagh Y; Tenenhouse HS; Roche PC; Drezner MK; Salisbury JL; Grande JP; Poeschla EM; Kumar R. 2002. Ontogeny of Phex/PHEX protein expression in mouse embryo and subcellular localization in osteoblasts. J Bone Miner Res 17(2):311-20. [PubMed: 11811562]  [MGI Ref ID J:112483]

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Wang L; Du L; Ecarot B. 1999. Evidence for Phex haploinsufficiency in murine X-linked hypophosphatemia. Mamm Genome 10(4):385-9. [PubMed: 10087298]  [MGI Ref ID J:54052]

Woodward JE; Meyer MH; Gray RW; Meyer RA Jr. 1993. Intestinal malabsorption of 45calcium in young Gy mice, a second model for X-linked hypophosphatemia. J Bone Miner Res 8(11):1281-90. [PubMed: 8266820]  [MGI Ref ID J:17152]

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Yuan B; Takaiwa M; Clemens TL; Feng JQ; Kumar R; Rowe PS; Xie Y; Drezner MK. 2008. Aberrant Phex function in osteoblasts and osteocytes alone underlies murine X-linked hypophosphatemia. J Clin Invest 118(2):722-34. [PubMed: 18172553]  [MGI Ref ID J:131043]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Room Number           FGB29

Colony Maintenance

Mating System	Heterozygote x Inbred         (Female x Male)
Diet Information	LabDiet® 5K52/5K67

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

Pricing

Supply Details

Standard Supply

Repository-Live. A collection of over 1000 strains maintained as live colonies. Individual colonies are sized to meet current customer demand. Delivery for orders of 10 mice or less ranges on average from one to eight weeks; mice are generally shipped between four to six weeks of age with a maximum shipping age of ~nine weeks. Colony sizes do not generally support stringent age specifications for large volumes of mice; however custom orders and larger quantities of mice are easily arranged. Estimated ship dates for all orders provided within 48 hours of order placement.

Supply Notes

Usually shipped between four and eight weeks of age. This strain is included in the Mouse Mutant Resource collection. Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

	Control
	Wild-type from the colony
	000664 C57BL/6J
Considerations for Choosing Controls
USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains.
International - Control Pricing Information for Genetically Engineered Mutant Strains.

General Terms and Conditions

See Terms of Use

The Jackson Laboratory's Genotype Promise

The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX^® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX^® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX^® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.

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Ordering and Purchasing Information

      Purchasing Information
      JAX^® Mice Orders
      Surgical Services

Contact Information
Orders & Technical Support
Tel: 800.422.6423 or 207.288.5845
Fax: 207.288.6150
Technical Support Email Form

Terms of Use

Terms of Use

General Terms and Conditions

Contact information

General inquiries

Contracts Administration

phone:	207-288-6470
fax:	207-288-6655

JAX^® Mice & Services Conditions of Use

“Each recipient institution, including its employees and other researchers under its control (RECIPIENT), of mice or services using mice from The Jackson Laboratory (TJL) agrees that such mice, descendants of those mice derived by inbreeding or crossbreeding, including unmodified derivatives of those mice or their descendants (“MICE”) shall not be: (i) used for any purpose other than the internal research of the RECIPIENT, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services with respect to MICE. Acceptance of MICE from TJL shall be deemed agreement by RECIPIENT to these conditions, and departure from these conditions requires The Jackson Laboratory’s prior written authorization.”

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of MICE, products or services, The Jackson Laboratory will, at its option, provide credit or replacement for the MICE or product received or the services provided.

No Liability

In no event shall The Jackson Laboratory, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, products or services, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of The Jackson Laboratory, its agents or employees. In purchasing or receiving MICE, products or services from The Jackson Laboratory, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges The Jackson Laboratory from all such causes of action or damages, and further agrees to defend and indemnify The Jackson Laboratory from any costs or damages arising out of any third party claims.

MICE and biological materials are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.

The foregoing represents the General Terms and Conditions applicable to The Jackson Laboratory’s MICE, products and services. In addition, special terms and conditions of sale of certain MICE, products and services may be set forth separately in The Jackson Laboratory web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, products and services by The Jackson Laboratory, and by its licensees and distributors.

Acceptance of delivery of MICE, products or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on The Jackson Laboratory, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, products services by The Jackson Laboratory.