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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		PhexHyp
hypophosphatemia
MGI:1857312
Summary 16 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		PhexHyp/PhexHyp B6.Cg-PhexHyp/J MGI:4429975
hm2
 		PhexHyp/PhexHyp involves: C3H/HeSnJ * C57BL/6J MGI:5009027
hm3
 		PhexHyp/PhexHyp involves: C57BL/6J MGI:5009009
ht4
 		PhexHyp/Phex+ B6.Cg-PhexHyp/J MGI:3764685
ht5
 		PhexHyp/Phex+ involves: C57BL/6J MGI:5009025
cx6
 		Fgf23tm1Sliu/Fgf23tm1Sliu
PhexHyp/Y 		involves: 129S/SvEv * C57BL/6 MGI:3653483
cx7
 		Fgf23tm1Sliu/Fgf23+
PhexHyp/Y 		involves: 129S/SvEv * C57BL/6 MGI:3653482
cx8
 		PhexHyp/Phex+
Tg(Bglap2-Phex)1Ldq/? 		involves: C57BL/6J MGI:4431220
cx9
 		Fgf23tm1Blan/Fgf23+
PhexHyp/Y 		Not Specified MGI:3512461
cx10
 		Fgf23tm1Blan/Fgf23tm1Blan
PhexHyp/Y 		Not Specified MGI:3512452
ot11
 		PhexHyp/Y B6.Cg-PhexHyp/J MGI:3764489
ot12
 		PhexHyp/Y involves: C3H/HeSnJ * C57BL/6J MGI:5009026
ot13
 		PhexHyp/Y involves: C57BL/6 MGI:5008997
ot14
 		PhexHyp/Y involves: C57BL/6J MGI:5009008
ot15
 		PhexHyp/Y Not Specified MGI:3653485
ot16
 		PhexHyp/? involves: C57BL/6J MGI:3779061


Genotype
MGI:4429975
hm1
Allelic
Composition		 PhexHyp/PhexHyp
Genetic
Background		 B6.Cg-PhexHyp/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
PhexHyp mutation (2 available); any Phex mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
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
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

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
osteomalacia ( J:87808 )
• there is a significant increase in cancellous osteoid volume per bone volume, and cancellous, endocortical, and periosteal osteoid thickness

cellular
maternal effect ( J:87808 )
• heterozygous offspring from homozygous females have shorter caudal vertebrae and increased osteoid within cancellous bone than do heterozygotes derived from hemizygous males




Genotype
MGI:5009027
hm2
Allelic
Composition		 PhexHyp/PhexHyp
Genetic
Background		 involves: C3H/HeSnJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
PhexHyp mutation (2 available); any Phex mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
digestive/alimentary system

homeostasis/metabolism




Genotype
MGI:5009009
hm3
Allelic
Composition		 PhexHyp/PhexHyp
Genetic
Background		 involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
PhexHyp mutation (2 available); any Phex mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
craniofacial
abnormal cranium morphology ( J:1654 )
• mice exhibit smaller cranial length, neurocranial length, and length from anterior to posterior palatine foramen compared with wild-type mice
• mice exhibit a shorter length from mandibular foramen to third molar compared with wild-type mice
abnormal cranial suture morphology ( J:1654 )
• mice exhibit prominent bulges at the frontonasal suture and the premaxiallary-maxillary suture unlike in wild-type mice

skeleton
abnormal cranium morphology ( J:1654 )
• mice exhibit smaller cranial length, neurocranial length, and length from anterior to posterior palatine foramen compared with wild-type mice
• mice exhibit a shorter length from mandibular foramen to third molar compared with wild-type mice
abnormal cranial suture morphology ( J:1654 )
• mice exhibit prominent bulges at the frontonasal suture and the premaxiallary-maxillary suture unlike in wild-type mice

growth/size/body
short nasal bone ( J:1654 )

respiratory system




Genotype
MGI:3764685
ht4
Allelic
Composition		 PhexHyp/Phex+
Genetic
Background		 B6.Cg-PhexHyp/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
PhexHyp mutation (2 available); any Phex mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

PhexHyp/Y male or PhexHyp/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

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 hypophosphatemic rickets DOID:0050445 OMIM:307800
 J:88352




Genotype
MGI:5009025
ht5
Allelic
Composition		 PhexHyp/Phex+
Genetic
Background		 involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
PhexHyp mutation (2 available); any Phex mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
digestive/alimentary system
decreased intestinal calcium absorption ( J:17152 )
• at 4 weeks, mice exhibit reduced calcium absorption in the duodenum compared with wild-type mice

growth/size/body
decreased body weight ( J:17152 )

homeostasis/metabolism




Genotype
MGI:3653483
cx6
Allelic
Composition		 Fgf23tm1Sliu/Fgf23tm1Sliu
PhexHyp/Y
Genetic
Background		 involves: 129S/SvEv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf23tm1Sliu mutation (1 available); any Fgf23 mutation (18 available)
PhexHyp mutation (2 available); any Phex mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:110579 )
• mortality rates are indistinguishable from Fgf23 homozgyotes

growth/size/body
abnormal postnatal growth/weight/body size ( J:110579 )
• male double mutants are identical to Fgf23tm1Sliu homozygotes
decreased body weight ( J:110579 )
decreased body length ( J:110579 )
• levels are decreased by ~10-fold in double homozygotes compared to Phex-deficient mice but are the same as levels with Fgf23-deficiency alone

homeostasis/metabolism
decreased circulating parathyroid hormone level ( J:110579 )
• levels are decreased by ~10-fold in double homozygotes compared to Phex-deficient mice but are the same as levels with Fgf23-deficiency alone
abnormal circulating calcium level ( J:110579 )
• at 6 weeks, serum calcium in males is increased to the level found in Fgf23-deficient mice
abnormal circulating phosphate level ( J:110579 )
• levels are same as male Fgf-null mice at 6 weeks
abnormal vitamin D level ( J:110579 )
• male mice show a markedly elevated increase in serum 1,25(OH)2D3 concentrations compared to Fgf23-deficient mice at 6 weeks

skeleton
abnormal long bone epiphyseal plate morphology ( J:110579 )
• abnormalities resemble those seen in male Fgf23 null mice
decreased bone mineral density ( J:110579 )
• bone mineral density is increased to levels similar to Fgf23-deficient mice but it is still lower than in wild-type
• there is a reduction in the amount of osteoid compared to Phex-null mice
rickets ( J:110579 )
• correction of rickets is observed compared to Fgf23+/-/Phex-null mice

limbs/digits/tail

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
X-linked hypophosphatemic rickets DOID:0050445 OMIM:307800
 J:110579




Genotype
MGI:3653482
cx7
Allelic
Composition		 Fgf23tm1Sliu/Fgf23+
PhexHyp/Y
Genetic
Background		 involves: 129S/SvEv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf23tm1Sliu mutation (1 available); any Fgf23 mutation (18 available)
PhexHyp mutation (2 available); any Phex mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
homeostasis/metabolism
decreased circulating phosphate level ( J:110579 )
• levels are similar to those in Phex-deficient mice
abnormal vitamin D level ( J:110579 )
• male mice show a ~3-fold increase in serum 1,25(OH)2D3 compared to Phex-null mice

skeleton
long femur ( J:110579 )
• femur length is increased over Phex homozygotes
increased bone mineral density ( J:110579 )
• male mice display a small but significant increase in bone mineral density compared to Phex-null mice

limbs/digits/tail
long femur ( J:110579 )
• femur length is increased over Phex homozygotes

growth/size/body
decreased body weight ( J:110579 )
• male mice have lower body weight than wild-type but it is increased over Phex homozygotes

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
X-linked hypophosphatemic rickets DOID:0050445 OMIM:307800
 J:110579




Genotype
MGI:4431220
cx8
Allelic
Composition		 PhexHyp/Phex+
Tg(Bglap2-Phex)1Ldq/?
Genetic
Background		 involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
PhexHyp mutation (2 available); any Phex mutation (22 available)
Tg(Bglap2-Phex)1Ldq mutation (0 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
homeostasis/metabolism
decreased circulating phosphate level ( J:74324 )
• despite increased Phex expression in osteoblasts these mice still have the diminished serum phosphate of hypophosphatemia mutants

skeleton
abnormal bone mineralization ( J:74324 )
• despite increased Phex expression in osteoblasts these mice have the same skeletal defects of hypophosphatemia mice including reduced bone mineral density, smaller than normal caudal vertebrae, increased widening and irregularity of growth plates, rickets and osteomalacia




Genotype
MGI:3512461
cx9
Allelic
Composition		 Fgf23tm1Blan/Fgf23+
PhexHyp/Y
Genetic
Background		 Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf23tm1Blan mutation (0 available); any Fgf23 mutation (18 available)
PhexHyp mutation (2 available); any Phex mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
limbs/digits/tail
short femur ( J:94041 )
• extremely short and thickened femurs similar to PhexHyp hemizygotes
increased diameter of femur ( J:94041 )
• extremely short and thickened femurs similar to PhexHyp hemizygotes

skeleton
short femur ( J:94041 )
• extremely short and thickened femurs similar to PhexHyp hemizygotes
increased diameter of femur ( J:94041 )
• extremely short and thickened femurs similar to PhexHyp hemizygotes
abnormal long bone metaphysis morphology ( J:94041 )
• exhibited cupping of the metaphysis below the growth plates

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
X-linked hypophosphatemic rickets DOID:0050445 OMIM:307800
 J:94041




Genotype
MGI:3512452
cx10
Allelic
Composition		 Fgf23tm1Blan/Fgf23tm1Blan
PhexHyp/Y
Genetic
Background		 Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf23tm1Blan mutation (0 available); any Fgf23 mutation (18 available)
PhexHyp mutation (2 available); any Phex mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
homeostasis/metabolism
increased circulating phosphate level ( J:94041 )
• higher serum phosphate levels than in hemizygous Phex mice with levels similar to Fgf23 homozygotes

limbs/digits/tail
abnormal femur morphology ( J:94041 )
• longer and thinner femurs compared to compound heterozygotes and hemizygous Phex, with relatively regular appearing growth plates

skeleton
abnormal femur morphology ( J:94041 )
• longer and thinner femurs compared to compound heterozygotes and hemizygous Phex, with relatively regular appearing growth plates
abnormal bone mineralization ( J:94041 )
• overall bone mineralization resembled that of homozygous Fgf23 mutants, including nodular deformities in ribs and paws at 3 weeks of age

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
autosomal dominant hypophosphatemic rickets DOID:0050948 OMIM:193100
 J:94041




Genotype
MGI:3764489
ot11
Allelic
Composition		 PhexHyp/Y
Genetic
Background		 B6.Cg-PhexHyp/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
PhexHyp mutation (2 available); any Phex mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

PhexHyp/Y male or PhexHyp/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 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

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
disorganized long bone epiphyseal plate ( J:88352 )
• disorganized femoral growth plates
decreased length of long bones ( J:88352 )
• the long bones are shortened
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 hypophosphatemic rickets DOID:0050445 OMIM:307800
 J:38621 , J:67356 , J:88352




Genotype
MGI:5009026
ot12
Allelic
Composition		 PhexHyp/Y
Genetic
Background		 involves: C3H/HeSnJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
PhexHyp mutation (2 available); any Phex mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
homeostasis/metabolism

digestive/alimentary system




Genotype
MGI:5008997
ot13
Allelic
Composition		 PhexHyp/Y
Genetic
Background		 involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
PhexHyp mutation (2 available); any Phex mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
homeostasis/metabolism
abnormal renal glucose reabsorption ( J:8335 )
• renal D-glucose uptake is enhanced compared to in wild-type mice
abnormal urine nucleotide level ( J:8335 )
• urinary cAMP is increased compared to in wild-type mice

renal/urinary system
abnormal renal glucose reabsorption ( J:8335 )
• renal D-glucose uptake is enhanced compared to in wild-type mice
abnormal urine nucleotide level ( J:8335 )
• urinary cAMP is increased compared to in wild-type mice




Genotype
MGI:5009008
ot14
Allelic
Composition		 PhexHyp/Y
Genetic
Background		 involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
PhexHyp mutation (2 available); any Phex mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
craniofacial
abnormal cranium morphology ( J:1654 )
• mice exhibit smaller cranial length, neurocranial length, and length from anterior to posterior palatine foramen compared with wild-type mice
abnormal cranial suture morphology ( J:1654 )
• mice exhibit prominent bulges at the frontonasal suture and the premaxiallary-maxillary suture unlike in wild-type mice

skeleton
abnormal cranium morphology ( J:1654 )
• mice exhibit smaller cranial length, neurocranial length, and length from anterior to posterior palatine foramen compared with wild-type mice
abnormal cranial suture morphology ( J:1654 )
• mice exhibit prominent bulges at the frontonasal suture and the premaxiallary-maxillary suture unlike in wild-type mice

digestive/alimentary system
decreased intestinal calcium absorption ( J:17152 )
• at 4 weeks, mice exhibit reduced calcium absorption in the duodenum compared with wild-type mice

growth/size/body
short nasal bone ( J:1654 )
decreased body weight ( J:17152 )

homeostasis/metabolism

respiratory system




Genotype
MGI:3653485
ot15
Allelic
Composition		 PhexHyp/Y
Genetic
Background		 Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
PhexHyp mutation (2 available); any Phex mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
growth/size/body
decreased body weight ( J:110579 )
• evident at 2 weeks of age
decreased body length ( J:110579 )
• evident at 2 weeks of age

homeostasis/metabolism
decreased circulating phosphate level ( J:110579 , J:131043 )
• serum levels are decreased by ~40% compared to wild-type at 6 weeks (J:110579)
• at 8 weeks of age (J:131043)
abnormal renal phosphate reabsorption ( J:131043 )
• reduction in renal phosphate uptake at 8 weeks of age
abnormal vitamin D level ( J:110579 )
• male mice show a 63% decrease in serum 1,25(OH)2D3 concentrations compared to wild-type at 6 weeks

renal/urinary system
abnormal renal phosphate reabsorption ( J:131043 )
• reduction in renal phosphate uptake at 8 weeks of age

skeleton
abnormal long bone hypertrophic chondrocyte zone ( J:110579 )
• an increase in this zone is evident
decreased bone mineral density ( J:110579 )
• there is about a 54% decrease in bone mineral density
abnormal osteocyte lacunocanalicular system morphology ( J:131043 )
• the inner lacunocanalicular wall is buckled and enlarged
abnormal osteocyte lacuna morphology ( J:131043 )
• osteocyte lacunae are increased in size and randomly organized compared to those in control bone
abnormal bone mineralization ( J:110579 )
• male mice display osteoidosis and impaired mineralization
osteomalacia ( J:131043 )
• osteomalacia characterized by hyperosteoidosis and an excess of unmineralilized osteoid
rickets ( J:110579 )
• male mice show age dependent growth retardation and skeletal dysplasia as a consequence of rickets

limbs/digits/tail




Genotype
MGI:3779061
ot16
Allelic
Composition		 PhexHyp/?
Genetic
Background		 involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
PhexHyp mutation (2 available); any Phex mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Growth plate mineralization in 24 day old PhexHyp/? mice

skeleton
enthesitis ( J:192371 )
• mutants exhibit mineralizing enthesopathy of the Achilles insertion (abnormal bony projection at the attachment of the tendon) as indicated by an expansion of type II collagen expressing mineralizing fibrochondrocytes in the Achilles tendon at 12 weeks of age leading to increased mineralization of the entheses
• treatment with oral phosphate and calcitriol does not significantly alter the hyperplasia of mineralizing fibrocartilage cells in the Achilles insertion at 12 weeks of age, however it did increase serum phosphate levels and exacerbated mineralization of the matrix surrounding the lacunae of fibrocartilage
increased width of hypertrophic chondrocyte zone ( J:99866 )
• growth plates are normal at E18.5, but by 10 days of age, expansion of the late hypertrophic chondrocyte layer is evident
abnormal fibrocartilage morphology ( J:192371 )
• increase in total fibrocartilage with age
abnormal chondrocyte physiology ( J:99866 )
• significant decrease in hypertrophic chondrocyte apoptosis compared to controls

homeostasis/metabolism
decreased circulating phosphate level ( J:99866 )
• serum phosphate levels are normal at E18.5 but by 10 days of age, significant hypophosphatemia is observed

immune system
enthesitis ( J:192371 )
• mutants exhibit mineralizing enthesopathy of the Achilles insertion (abnormal bony projection at the attachment of the tendon) as indicated by an expansion of type II collagen expressing mineralizing fibrochondrocytes in the Achilles tendon at 12 weeks of age leading to increased mineralization of the entheses
• treatment with oral phosphate and calcitriol does not significantly alter the hyperplasia of mineralizing fibrocartilage cells in the Achilles insertion at 12 weeks of age, however it did increase serum phosphate levels and exacerbated mineralization of the matrix surrounding the lacunae of fibrocartilage

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
X-linked hypophosphatemic rickets DOID:0050445 OMIM:307800
 J:99866




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Send questions and comments to User Support. 		last database update
12/17/2024
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