All Phenotypes Phex<+> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Phex⁺
wild type
MGI:2433798

Summary

10 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Phex^m1Jrt/Phex⁺	B6.129S1-Phex^M1Jrt	MGI:5492338
ht2	Phex^Hyp/Phex⁺	B6.Cg-Phex^Hyp/J	MGI:3764685
ht3	Phex^Mhdabap024/Phex⁺	C3HeB/FeJ-Phex^Mhdabap024	MGI:6198726
ht4	Phex^Hyp-2J/Phex⁺	C57BL/6-Phex^Hyp-2J/J	MGI:3037641
ht5	Phex^Ska1/Phex⁺	C57BL/6-Phex^Ska1	MGI:4450916
ht6	Phex^Hyp-Duk/Phex⁺	involves: BALB/cAnBomUrd	MGI:3037643
ht7	Phex^Hpr/Phex⁺	involves: C3H/HeH * C57BL/6J	MGI:5435551
ht8	Phex^Hyp/Phex⁺	involves: C57BL/6J	MGI:5009025
ht9	Phex^Pug/Phex⁺	involves: C57BL/6J	MGI:3806977
cx10	Phex^Hyp/Phex⁺ Tg(Bglap2-Phex)1Ldq/?	involves: C57BL/6J	MGI:4431220

Allelic Composition	Phex^m1Jrt/Phex⁺
Genetic Background	B6.129S1-Phex^M1Jrt

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Phex^m1Jrt mutation (0 available); any Phex mutation (22 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

growth/size/body

decreased body size ( J:196537 )

decreased body weight ( J:196537 )

• observed at 8 weeks of age

decreased body length ( J:196537 )

limbs/digits/tail

camptomelia ( J:196537 )

• abnormal curvature of the long bones

skeleton

camptomelia ( J:196537 )

• abnormal curvature of the long bones

decreased length of long bones ( J:196537 )

• shorter bones throughout the skeleton, including tibiae and femurs

abnormal pelvic girdle bone morphology ( J:196537 )

• abnormal curvature of the pelvic bones

small vertebrae ( J:196537 )

• shorter, smaller vertebrae, in particular the tail vertebrae

abnormal joint morphology ( J:196537 )

• marked enlargement of all joints

homeostasis/metabolism

decreased circulating calcium level ( J:196537 )

decreased circulating phosphate level ( J:196537 )

increased circulating alkaline phosphatase level ( J:196537 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
X-linked hypophosphatemic rickets		DOID:0050445	OMIM:307800	J:196537

Allelic Composition	Phex^Hyp/Phex⁺
Genetic Background	B6.Cg-Phex^Hyp/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Phex^Hyp mutation (2 available); any Phex mutation (22 available)

♀	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 )

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

Allelic Composition	Phex^Mhdabap024/Phex⁺
Genetic Background	C3HeB/FeJ-Phex^Mhdabap024

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Phex^Mhdabap024 mutation (1 available); any Phex mutation (22 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

homeostasis/metabolism

abnormal blood homeostasis ( J:264682 )

• high circuiting intact FGF23 levels at 12 and 27 weeks of age

• however, mice show normal levels of Vitamin D

increased circulating parathyroid hormone level ( J:264682 )

decreased circulating phosphate level ( J:264682 )

• mice are hypophosphatemic

• however, mice are normocalcemic

decreased urine calcium level ( J:264682 )

• mice show a tendency to hypocalciuria

increased urine phosphate level ( J:264682 )

endocrine/exocrine glands

increased activity of parathyroid ( J:264682 )

• mice exhibit hyperparathyroidism

renal/urinary system

renal/urinary system phenotype ( J:264682 )

N	• mice exhibit normal glomerular filtration rate, plasma urea and creatinine levels, and urea clearance, and no nephrocalcinosis, indicating normal kidney function

decreased urine calcium level ( J:264682 )

• mice show a tendency to hypocalciuria

increased urine phosphate level ( J:264682 )

cardiovascular system

cardiovascular system phenotype ( J:264682 )

N	• mice exhibit normal systolic blood pressure, normal cholesterol and high-density lipoprotein cholesterol levels in blood, no calcifications in the aorta, and no indication of left ventricular hypertrophy or cardiac fibrosis, indicating no cardiovascular disease

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
X-linked hypophosphatemic rickets		DOID:0050445	OMIM:307800	J:264682

Allelic Composition	Phex^Hyp-2J/Phex⁺
Genetic Background	C57BL/6-Phex^Hyp-2J/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Phex^Hyp-2J mutation (1 available); any Phex mutation (22 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

growth/size/body

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

• all females have a squared trunk

limbs/digits/tail

short hindlimb ( J:88352 )

• shortened hind limbs are seen

short tail ( J:88352 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
X-linked hypophosphatemic rickets		DOID:0050445	OMIM:307800	J:88352

Allelic Composition	Phex^Ska1/Phex⁺
Genetic Background	C57BL/6-Phex^Ska1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Phex^Ska1 mutation (0 available); any Phex mutation (22 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

behavior/neurological

abnormal gait ( J:79953 )

• affected females display an abnormal gait due to abnormal angulation of the hips and knees

limbs/digits/tail

abnormal acetabulum morphology ( J:79953 )

• medial displacement of the acetabular cavity

short hindlimb ( J:79953 )

• affected females have shortened hindlimbs

abnormal limb long bone morphology ( J:79953 )

• affected females display shortening and bowing of the long bones in the hindlimbs

short humerus ( J:79953 )

short radius ( J:79953 )

short ulna ( J:79953 )

short femur ( J:79953 )

• all (71 of 71) heterozygous females display shortened femurs in the hindlimbs

short fibula ( J:79953 )

short tibia ( J:79953 )

abnormal caudal vertebrae morphology ( J:79953 )

• all (71 of 71) heterozygous females exhibit elliptical tail vertebrae

skeleton

abnormal skeleton morphology ( J:79953 )

• most bone measurements are significantly shorter than in wild-type controls; only the mandible length is not significantly shorter

abnormal limb long bone morphology ( J:79953 )

• affected females display shortening and bowing of the long bones in the hindlimbs

short humerus ( J:79953 )

short radius ( J:79953 )

short ulna ( J:79953 )

short femur ( J:79953 )

• all (71 of 71) heterozygous females display shortened femurs in the hindlimbs

short fibula ( J:79953 )

short tibia ( J:79953 )

abnormal caudal vertebrae morphology ( J:79953 )

• all (71 of 71) heterozygous females exhibit elliptical tail vertebrae

small clavicle ( J:79953 )

abnormal pelvic girdle bone morphology ( J:79953 )

• all (71 of 71) heterozygous females display a smaller pelvis with medial displacement of the acetabular cavity

abnormal acetabulum morphology ( J:79953 )

• medial displacement of the acetabular cavity

abnormal obturator foramen morphology ( J:79953 )

• affected female heterozygotes have a shorter obturator foramen than wild-type controls

abnormal rib morphology ( J:79953 )

• 22 of 71 heterozygous females display rib exostoses at the costochondral junctions

decreased bone mineral density ( J:79953 )

• affected females show reduced bone density in the pelvic bones

decreased bone mineral density of femur ( J:79953 )

• affected females show reduced bone density in shaft of the proximal femur

decreased compact bone thickness ( J:79953 )

• affected females exhibit cortical thinning

exostosis ( J:79953 )

• 22 of 71 heterozygous females display rib exostoses at the costochondral junctions

homeostasis/metabolism

decreased circulating phosphate level ( J:79953 )

• affected heterozygous females exhibit significantly lower serum phosphorus levels (1.15 +/- 0.22 mmol/L) than wild-type controls (2.47 +/- 0.05 mmol/L)

increased circulating alkaline phosphatase level ( J:79953 )

• affected heterozygous females exhibit significantly higher serum alkaline phosphatase levels (338 +/- 61 IU/l) than wild-type controls (192 +/- 15 IU/l)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
X-linked hypophosphatemic rickets		DOID:0050445	OMIM:307800	J:79953

Allelic Composition	Phex^Hyp-Duk/Phex⁺
Genetic Background	involves: BALB/cAnBomUrd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Phex^Hyp-Duk mutation (3 available); any Phex mutation (22 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

behavior/neurological

circling ( J:88352 )

• some but not all females showed circling behavior

growth/size/body

postnatal growth retardation ( J:88352 )

• some but not all females are mildly growth retarded in overall body size with a squared trunk

• unlike Phex^Hyp-2J it is not easy to distinguish between heterozygous females and wild-type females

limbs/digits/tail

short hindlimb ( J:88352 )

• some but not all females have shortened hind limbs

short tail ( J:88352 )

• some but not all females have a shortened tail

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
X-linked hypophosphatemic rickets		DOID:0050445	OMIM:307800	J:88352

Allelic Composition	Phex^Hpr/Phex⁺
Genetic Background	involves: C3H/HeH * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Phex^Hpr mutation (2 available); any Phex mutation (22 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

skeleton

abnormal long bone morphology ( J:187142 )

• heterozygous female mice with bowed tibia

increased diameter of femur ( J:187142 )

• increased mid femoral diaphysis diameter by 17%

decreased length of long bones ( J:187142 )

short femur ( J:187142 )

• reduced more than 10%

abnormal vertebrae morphology ( J:187142 )

• vertebral height reduced by 15%

abnormal bone structure ( J:187142 )

• increased bone porosity at all ages

decreased bone mineral density ( J:187142 )

• at 20 weeks of age

homeostasis/metabolism

decreased circulating phosphate level ( J:187142 )

• at 12 weeks of age

increased circulating alkaline phosphatase level ( J:187142 )

• at 12 weeks of age

limbs/digits/tail

short femur ( J:187142 )

• reduced more than 10%

increased diameter of femur ( J:187142 )

• increased mid femoral diaphysis diameter by 17%

Allelic Composition	Phex^Hyp/Phex⁺
Genetic Background	involves: C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Phex^Hyp 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

decreased circulating phosphate level ( J:17152 )

Allelic Composition	Phex^Pug/Phex⁺
Genetic Background	involves: C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Phex^Pug mutation (0 available); any Phex mutation (22 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

growth/size/body

decreased body size ( J:136463 )

• small body size

limbs/digits/tail

short hindlimb ( J:136463 )

• shortened hind limbs

short tail ( J:136463 )

• shortened tail

Allelic Composition	Phex^Hyp/Phex⁺ Tg(Bglap2-Phex)1Ldq/?
Genetic Background	involves: C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Phex^Hyp 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

decreased bone mass ( J:74324 )

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

osteomalacia ( J:74324 )

rickets ( J:74324 )

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