Strain Name:

BALB/c-PhexHyp-Duk/J

Stock Number:

005852

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Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Type Coisogenic; Mutant Strain; Spontaneous Mutation;
Additional information on Genetically Engineered and Mutant Mice.
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Specieslaboratory mouse
GenerationF64+21pN1
Generation Definitions

Description
This mutant offers a model for X-linked dominant hypophosphatemic rickets. The serum phosphorus (2.95 mg/dL) in hemizygous males is lower than that found in hypophosphatemia, hypophosphatemia 2 Jackson, or gyro hemizygous males. The skeletal defects include shortened long bones and craniofacial defects and hemizygous males have cochlear degeneration and a heightened auditory brainstem response threshold, higher than that in other Phex mutants. The heightened ABR threshold is dependent upon a modifier that is absent in BALB/cByJ. Consistent with vestibular dysfunction, approximately half of the hemizygous males and some of the heterozygous females display circling behavior, and in hemizygous males head bobbing or unstable gait have also been noted. Hemizygous males are mildly growth retarded, with a squared and shortened body, and shortened hind limbs and tail. While some heterozygous females display circling and growth retardation, not all do and they are more difficult to distinguish from wildtype than are heterozygous hypophosphatemia 2 Jackson heterozygotes.

Development
The Hyp-Duk mutation arose spontaneously in a BALB/cAnBomUrd subline bearing a nude (Foxn1) mutation in the laboratory of Susan Poulton at Duke University. In Sept 1998 BALB/AnBomUrd mice segregating for both nude and the Hyp-Duk mutation at generation F64 were received at The Jackson Laboratory, sibling bred, and re-derived. Through selective sibling crosses the nude mutation was bred out of this strain and the Hyp-Duk mutation maintained. The strain continued to be maintained through sibling inbreeding. In 2006 sperm was cryopreserved from hemizygous males at generation F64+21. Cryo-recovery is anticipated to involve BALB/cByJ females making the cryo-recovered mice genetically distinct from the source of the cryoperserved sperm, stock #003905.

Related Strains

Strains carrying   PhexHyp-Duk allele
005068   B6.C-PhexHyp-Duk/J
003905   BALB/cAnBomUrd-PhexHyp-Duk/J
View Strains carrying   PhexHyp-Duk     (2 strains)

Strains carrying other alleles of Phex
000528   B6.Cg-PhexHyp/J
003950   C57BL/6-PhexHyp-2J/J
View Strains carrying other alleles of Phex     (2 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
Hypophosphatemic Rickets, X-Linked Dominant; XLHR
Models with phenotypic similarity to human diseases where etiology is unknown or involving genes where ortholog is unknown.
Otitis Media, Susceptibility to
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

PhexHyp-Duk/Phex+

        involves: BALB/cAnBomUrd
  • behavior/neurological phenotype
  • circling
    • some but not all females showed circling behavior   (MGI Ref ID J:88352)
  • growth/size/body phenotype
  • postnatal growth retardation
    • some but not all females are mildly growth retarded in overall body size with a squared trunk   (MGI Ref ID J:88352)
    • unlike PhexHyp-2J it is not easy to distinguish between heterozygous females and wild-type females   (MGI Ref ID J:88352)
  • limbs/digits/tail phenotype
  • abnormal hindlimb morphology
    • some but not all females have shortened hind limbs   (MGI Ref ID J:88352)
  • short tail
    • some but not all females have a shortened tail   (MGI Ref ID J:88352)

PhexHyp-Duk/Y

        involves: BALB/cAnBomUrd
  • adipose tissue phenotype
  • decreased total body fat amount
    • a significant increase in lean body mass is seen compared to controls   (MGI Ref ID J:88352)
  • behavior/neurological phenotype
  • abnormal gait
    • in some hemizygotes   (MGI Ref ID J:132678)
  • circling
    • 11 out of 20 males showed circling behaviour   (MGI Ref ID J:88352)
  • head bobbing
    • in some hemizygotes   (MGI Ref ID J:132678)
  • craniofacial phenotype
  • abnormal craniofacial bone morphology   (MGI Ref ID J:88352)
    • abnormal temporal bone morphology
      • the temporal bone surrounding the cochlea is thickened with areas of non-mineralization   (MGI Ref ID J:88352)
    • short maxilla
      • the length of the upper jaw is reduced   (MGI Ref ID J:88352)
    • small cranium
      • at 12 weeks the skull is significantly shorter in length with a shorter nose length and lower areal bone mineral density compared to controls   (MGI Ref ID J:88352)
      • skull width and skull to nose length ratio are unaffected   (MGI Ref ID J:88352)
  • growth/size/body phenotype
  • decreased body weight
    • all males have significantly lower body weights, ~25% less than controls   (MGI Ref ID J:88352)
  • decreased total body fat amount
    • a significant increase in lean body mass is seen compared to controls   (MGI Ref ID J:88352)
  • postnatal growth retardation
    • all males are mildly growth retarded in overall body size with a squared trunk   (MGI Ref ID J:88352)
  • hearing/vestibular/ear phenotype
  • *normal* hearing/vestibular/ear phenotype
    • at 40 days of age the cells of the spiral ganglion and the organ of Corti remain intact   (MGI Ref ID J:132678)
    • abnormal inner ear morphology   (MGI Ref ID J:88352)
      • abnormal cochlea morphology
        • endolymph volume appears larger in the cochleas, resulting in increased scala media, decreased scala vestibule and displacement of Reissner's membrane which separates these   (MGI Ref ID J:88352)
        • abnormal scala tympani morphology
          • a precipitate is found in the scala tympani of the cochlea   (MGI Ref ID J:88352)
        • distended Reissner membrane   (MGI Ref ID J:132678)
        • organ of Corti degeneration
          • degeneration is obvious in the apical turn of the cochlea but decreases towards the base   (MGI Ref ID J:88352)
      • abnormal otic capsule morphology
        • the otic bony capsule of hemizygotes is thickened and surrounded by non-mineralized bone at around 25 days of age   (MGI Ref ID J:132678)
      • abnormal vestibular saccule morphology
        • in some instances at 90 days of age the saccule is ruptured apparently due to hydrops   (MGI Ref ID J:132678)
    • ear inflammation
      • some hemizygotes show mild apical hydrops at 21 to 25 days of age, but this is not accompanied by hair cell loss and the endolymphatic duct appears normal along its entire course with no occlusion or dilation   (MGI Ref ID J:132678)
      • by 40 days of age most hemizygotes have severe endolymphatic hydrops with distension of Reissner's membrane   (MGI Ref ID J:132678)
      • by 90 days of age severe hydrops in all parts of the labyrinth is found and Reissner's membrane is displaced   (MGI Ref ID J:132678)
      • increased susceptibility to otitis media   (MGI Ref ID J:132678)
    • impaired hearing
      • ABR assessment shows that at 21 days of age most hemizygotes have mild to moderate unilateral hearing loss, by 25 days of age the majority have bilateral hearing loss exceeding that of controls by 30 dB, and hearing loss is progressive with onset of inner ear dysfunction centered between 25 and 30 days of age   (MGI Ref ID J:132678)
      • unilateral deafness   (MGI Ref ID J:132678)
    • increased or absent threshold for auditory brainstem response   (MGI Ref ID J:132678)
      • mean auditory brainstem response thresholds are significantly higher than controls   (MGI Ref ID J:88352)
      • mean auditory brainstem response thresholds are also significantly higher than other Phex male mutants (PhexHyp, PhexHyp-2J, Gy)   (MGI Ref ID J:88352)
      • this difference from other Phex mutants but not from wild-type controls disappeared when PhexHyp-Duk was outcrossed to BALB/cByJ   (MGI Ref ID J:88352)
  • homeostasis/metabolism phenotype
  • decreased circulating calcium level
    • at 6 weeks of age serum Ca2+ are significantly decreased compared to controls   (MGI Ref ID J:88352)
  • decreased circulating potassium level
    • at 6 weeks of age serum PO4 levels are significantly lower than controls   (MGI Ref ID J:88352)
  • limbs/digits/tail phenotype
  • abnormal hindlimb morphology
    • shortened hind limbs are seen   (MGI Ref ID J:88352)
    • short femur   (MGI Ref ID J:88352)
    • short fibula
      • the fibula is shortened and splayed   (MGI Ref ID J:88352)
    • short tibia
      • the tibia is shortened and splayed   (MGI Ref ID J:88352)
  • abnormal limb bone morphology   (MGI Ref ID J:88352)
    • abnormal patella morphology
      • growth plates of the knee are thickened and irregular   (MGI Ref ID J:88352)
    • short femur   (MGI Ref ID J:88352)
    • short fibula
      • the fibula is shortened and splayed   (MGI Ref ID J:88352)
    • short tibia
      • the tibia is shortened and splayed   (MGI Ref ID J:88352)
  • short tail   (MGI Ref ID J:88352)
  • skeleton phenotype
  • abnormal craniofacial bone morphology   (MGI Ref ID J:88352)
    • abnormal temporal bone morphology
      • the temporal bone surrounding the cochlea is thickened with areas of non-mineralization   (MGI Ref ID J:88352)
    • short maxilla
      • the length of the upper jaw is reduced   (MGI Ref ID J:88352)
    • small cranium
      • at 12 weeks the skull is significantly shorter in length with a shorter nose length and lower areal bone mineral density compared to controls   (MGI Ref ID J:88352)
      • skull width and skull to nose length ratio are unaffected   (MGI Ref ID J:88352)
  • abnormal limb bone morphology   (MGI Ref ID J:88352)
    • abnormal patella morphology
      • growth plates of the knee are thickened and irregular   (MGI Ref ID J:88352)
    • short femur   (MGI Ref ID J:88352)
    • short fibula
      • the fibula is shortened and splayed   (MGI Ref ID J:88352)
    • short tibia
      • the tibia is shortened and splayed   (MGI Ref ID J:88352)
  • decreased bone mineral density
    • between 6 and 40 weeks of age under-mineralized bone is present throughout the body   (MGI Ref ID J:88352)
  • decreased length of long bones
    • the long bones are shortened   (MGI Ref ID J:88352)
    • short femur   (MGI Ref ID J:88352)
    • short fibula
      • the fibula is shortened and splayed   (MGI Ref ID J:88352)
    • short tibia
      • the tibia is shortened and splayed   (MGI Ref ID J:88352)
  • disorganized long bone epiphyseal plate
    • disorganized femoral growth plates   (MGI Ref ID J:88352)
  • increased diameter of long bones
    • the long bones are thickened   (MGI Ref ID J:88352)
  • nervous system phenotype
  • cochlear ganglion degeneration
    • degeneration is obvious in the apical turn of the cochlea but decreases towards the base   (MGI Ref ID J:88352)
    • at 90 days of age spiral ganglion degeneration in most turns of the cochlea is found, although the hair cells are largely preserved   (MGI Ref ID J:132678)
  • immune system phenotype
  • ear inflammation
    • some hemizygotes show mild apical hydrops at 21 to 25 days of age, but this is not accompanied by hair cell loss and the endolymphatic duct appears normal along its entire course with no occlusion or dilation   (MGI Ref ID J:132678)
    • by 40 days of age most hemizygotes have severe endolymphatic hydrops with distension of Reissner's membrane   (MGI Ref ID J:132678)
    • by 90 days of age severe hydrops in all parts of the labyrinth is found and Reissner's membrane is displaced   (MGI Ref ID J:132678)
    • increased susceptibility to otitis media   (MGI Ref ID J:132678)

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

PhexHyp-Duk/Y

        B6.C-PhexHyp-Duk/J
  • behavior/neurological phenotype
  • *normal* behavior/neurological phenotype
    • startle response is normal and no head-bobbing or circling are seen   (MGI Ref ID J:132678)
  • growth/size/body phenotype
  • decreased body size   (MGI Ref ID J:132678)
  • craniofacial phenotype
  • abnormal cranium morphology
    • slightly abnormal shape   (MGI Ref ID J:132678)
  • skeleton phenotype
  • abnormal cranium morphology
    • slightly abnormal shape   (MGI Ref ID J:132678)
  • hearing/vestibular/ear phenotype
  • *normal* hearing/vestibular/ear phenotype
    • startle response is normal and no head-bobbing or circling are seen   (MGI Ref ID J:132678)
    • ABR recordings at 21 to 50 days of age are normal, cochlear ducts at 4 months of age do not show endolymphatic hydrops or spiral ganglion cell degeneration   (MGI Ref ID J:132678)
    • abnormal otic capsule morphology
      • by one month of age the otic capsule is markedly thickened and surrounded by non-mineralized bone, similar to that seen on the BALB/cUrd background   (MGI Ref ID J:132678)
    • increased or absent threshold for auditory brainstem response
      • although on the C67BL/6J background the ABR threshold is normal in younger mice, at over 2 months of age some unilateral increase in threshold of 10-15 dB SPL above normal is found so the hearing loss is much less severe than on the BALB/cUrd background   (MGI Ref ID J:132678)

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol PhexHyp-Duk
Allele Name hypophosphatemia, Duke
Allele Type Spontaneous
Strain of OriginCAnBomUrd.Cg-Foxn1
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; LXHR; PEX; XLH; gyro; hypophosphatemia;
Molecular Note Genomic PCR and Southern blot analysis indicated a deletion of at least 30 kb containing exons 13 and 14 of the Phex gene.

Genotyping

Genotyping Information


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

PhexHyp-Duk related

Han F; Yu H; Li P; Zhang J; Tian C; Li H; Zheng QY. 2012. Mutation in Phex gene predisposes BALB/c-Phex(Hyp-Duk)/Y mice to otitis media. PLoS One 7(9):e43010. [PubMed: 23028440]  [MGI Ref ID J:192046]

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]

Megerian CA; Semaan MT; Aftab S; Kisley LB; Zheng QY; Pawlowski KS; Wright CG; Alagramam KN. 2008. A mouse model with postnatal endolymphatic hydrops and hearing loss. Hear Res 237(1-2):90-105. [PubMed: 18289812]  [MGI Ref ID J:132678]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


Pricing for USA, Canada and Mexico shipping destinations View International Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $2450.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.
    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 11 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice
    Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $3185.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.
    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 11 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice
    Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

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