Overview

Also Known As:hypophosphatemia 2 Jackson

This model of X-linked dominant hypophosphatemic rickets does not display degeneration of the organ of Corti or hearing loss.

Genetic overview

Genetic Background	Generation

Phex^Hyp-2J

Allele Type	Gene Symbol	Gene Name
Spontaneous	Phex	phosphate regulating endopeptidase homolog, X-linked

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Research Applications

Internal/Organ Research
Metabolism Research
Developmental Biology Research

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

Heterozygous females and hemizygous males have a square shaped trunk, shortened tail, and shortened hind limbs. Hemizygous males weigh approximately 25% less than wildtype male controls and the skull has a smaller length and width than normal with a lower areal bone mineral density and larger inner canthal distance. Hemizygous males have hypocalcemia, decreased serum PO₄ and Ca²⁺, undermineralized bone, thickened and irregular growth plates of the knees, and higher lean body mass. Unlike Phex hemizygotes, Phex hemizygous males have normal hearing by ABR threshold analysis and, although cross sections of the cochlea show thickening of the temporal bone and a precipitate in the scala tympani, no degeneration of the organ of Corti or spiral ganglion is found. This mutant strain provides a model of X-linked dominant hypophosphatemic rickets.

Control Suggestions

Wild-type siblings from the colony
000664 C57BL/6J

Additional Information

Considerations for Choosing Controls

Selected References

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):151-61PubMed: 15029877 MGI: J:88352

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Genetics

Phex^Hyp-2J

Allele Symbol: Phex^Hyp-2J

Allele Name	hypophosphatemia 2 Jackson
Allele Type	Spontaneous
Allele Synonym(s)
Gene Symbol and Name	Phex, phosphate regulating endopeptidase homolog, X-linked
Gene Synonym(s)
Strain of Origin	C57BL/6J
Chromosome	X
Molecular Note	A deletion of at least 7.3 kb containing exon 15 of the Phex gene was identified and confirmed by RT-PCR, genomic PCR and Southern blot analysis

Disease/Phenotype

Disease Terms

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).

X-linked dominant hypophosphatemic rickets

Research Areas By Phenotype

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

Genotype: Phex^Hyp-2J related

Internal/Organ Research
- Skeleton
  - Bone
Metabolism Research
- Enzyme Deficiency
Developmental Biology Research
- Skeletal Defects
- Craniofacial and Palate Defects

Mammalian Phenotype Terms by Genotype

The following phenotype relates to a compound genotype created using this strain

Genotype: Phex^Hyp-2J/Y
C57BL/6-Phex/J

craniofacial phenotype

abnormal craniofacial bone morphology

small cranium
- at 12 weeks the skull is significantly shorter in length and width with lower areal bone mineral density compared to controls
- skull height, nose length, and lower/upper jaw length are unaffected
- the distance between the inner tips of the orbital sockets (inner canthal distance) is increased

mammalian phenotype

hearing/vestibular/ear phenotype
- Normal - mean auditory brainstem response thresholds are not different from controls
- Normal - no degeneration of the organ of Corti or spiral ganglion is seen

skeleton phenotype

abnormal craniofacial bone morphology

abnormal patella morphology
- growth plates of the knee are thickened and irregular

decreased bone mineral density
- between 6 and 40 weeks of age under-mineralized bone is present throughout the body

decreased length of long bones
- the long bones are shortened

disorganized long bone epiphyseal plate
- disorganized femoral growth plates

increased diameter of long bones
- the long bones are thickened

short femur

short fibula
- the fibula is shortened and splayed

short tibia
- the tibia is shortened and splayed

small cranium
- at 12 weeks the skull is significantly shorter in length and width with lower areal bone mineral density compared to controls
- skull height, nose length, and lower/upper jaw length are unaffected
- the distance between the inner tips of the orbital sockets (inner canthal distance) is increased

growth/size/body region phenotype

decreased body weight
- all males have significantly lower body weights (~25% less than controls) and a squared trunk

hearing/vestibular/ear phenotype

abnormal scala tympani morphology
- a precipitate is found in the scala tympani of the cochlea

homeostasis/metabolism phenotype

decreased circulating calcium level
- at 6 weeks of age serum Ca²⁺ are significantly decreased compared to controls

decreased circulating potassium level
- at 6 weeks of age serum PO₄ levels are significantly lower than controls

limbs/digits/tail phenotype

abnormal hindlimb morphology
- shortened hind limbs are seen

abnormal patella morphology
- growth plates of the knee are thickened and irregular

short femur

short fibula
- the fibula is shortened and splayed

short tail

short tibia
- the tibia is shortened and splayed

Genotype: Phex^Hyp-2J/Phex⁺
C57BL/6-Phex/J

growth/size/body region phenotype

abnormal postnatal growth/weight/body size
- all females have a squared trunk

limbs/digits/tail phenotype

abnormal hindlimb morphology
- shortened hind limbs are seen

short tail

References

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):151-61PubMed: 15029877 MGI: J:88352

Additional References

Palmer K; Fairfield H; Borgeia S; Curtain M; Hassan MG; Dionne L; Yong Karst S; Coombs H; Bronson RT; Reinholdt LG; Bergstrom DE; Donahue LR; Cox TC; Murray SA. 2016. Discovery and characterization of spontaneous mouse models of craniofacial dysmorphology. Dev Biol 415(2):216-27PubMed: 26234751 MGI: J:223062

Additional - Phex^Hyp-2J related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
Appearance
- black, small size, square trunk, shortened hindlimbs and tail
  Related Genotype: a/a Phex^Hyp-2J/Y male
  
  black, squared trunk, shortened hindlimbs and tail
  Related Genotype: a/a Phex^Hyp-2J/+ female
Citation
When using the hypophosphatemia 2 Jackson mouse strain in a publication, please cite the originating article(s) and include JAX stock #003950 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

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

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
	X linked - Heterozygous Females and Wild-type males for Phex<Hyp-2J>

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Also Known As:hypophosphatemia 2 Jackson

Genetic overview

Research Applications

Base Price

Detailed Description

Control Suggestions

Additional Information

Selected References

PhexHyp-2J

Allele Symbol: PhexHyp-2J

Disease Terms

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).

Research Areas By Phenotype

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

Genotype: PhexHyp-2J related

Mammalian Phenotype Terms by Genotype

Genotype: PhexHyp-2J/YC57BL/6-Phex/J

craniofacial phenotype

mammalian phenotype

skeleton phenotype

growth/size/body region phenotype

hearing/vestibular/ear phenotype

homeostasis/metabolism phenotype

limbs/digits/tail phenotype

Genotype: PhexHyp-2J/Phex+C57BL/6-Phex/J

growth/size/body region phenotype

limbs/digits/tail phenotype

References

Additional References

Additional - PhexHyp-2J related

Genotyping Protocols

Appearance

Citation

Animal Health Reports

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

Live Mouse

Cryorecovery - Pricing

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Phex^Hyp-2J

Allele Symbol: Phex^Hyp-2J

Genotype: Phex^Hyp-2J related

Genotype: Phex^Hyp-2J/Y
C57BL/6-Phex/J

Genotype: Phex^Hyp-2J/Phex⁺
C57BL/6-Phex/J

Additional - Phex^Hyp-2J related