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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		PhexSka1
skeletal abnormality 1
MGI:2429767
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		PhexSka1/PhexSka1 C57BL/6-PhexSka1 MGI:4450915
ht2
 		PhexSka1/Phex+ C57BL/6-PhexSka1 MGI:4450916
ot3
 		PhexSka1/Y C57BL/6-PhexSka1 MGI:4450917


Genotype
MGI:4450915
hm1
Allelic
Composition		 PhexSka1/PhexSka1
Genetic
Background		 C57BL/6-PhexSka1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
PhexSka1 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 display shortened hindlimbs
abnormal limb long bone morphology ( J:79953 )
• affected females display shortening and bowing of the long bones in the hindlimbs
short femur ( J:79953 )
• all (6 of 6) homozygous females display shortened femurs in the hindlimbs
abnormal caudal vertebrae morphology ( J:79953 )
• all (6 of 6) homozygous females exhibit elliptical tail vertebrae

skeleton
abnormal osteoclast physiology ( J:79953 )
• chondrocytes and remnants of the growth plate are found in the mineralized trabeculae, indicating impaired osteoclastic bone resorption
abnormal limb long bone morphology ( J:79953 )
• affected females display shortening and bowing of the long bones in the hindlimbs
short femur ( J:79953 )
• all (6 of 6) homozygous females display shortened femurs in the hindlimbs
abnormal caudal vertebrae morphology ( J:79953 )
• all (6 of 6) homozygous females exhibit elliptical tail vertebrae
abnormal long bone epiphyseal plate morphology ( J:79953 )
• affected female homozygotes display a significant increase in the width of unmineralized epiphyseal growth plate
increased width of hypertrophic chondrocyte zone ( J:79953 )
• affected female homozygotes exhibit a significant increase in hypertrophic zone width
abnormal long bone metaphysis morphology ( J:79953 )
• affected female homozygotes exhibit decreased bone width in the central metaphysis, and increased trabecular bone volume in the proximal metaphysis
abnormal pelvic girdle bone morphology ( J:79953 )
• all (6 of 6) homozygous females display a smaller pelvis with medial displacement of the acetabular cavity
abnormal acetabulum morphology ( J:79953 )
• medial displacement of the acetabular cavity
abnormal costochondral joint morphology ( J:79953 )
• 2 of 6 homozygous females display rib exostoses at the costochondral junctions
decreased bone mineral density ( J:79953 )
• affected females show reduced bone density in the pelvic bones and shaft of the proximal femur
decreased bone mineral density of femur ( J:79953 )
• affected females show reduced bone density in the shaft of the proximal femur
decreased compact bone thickness ( J:79953 )
• affected females exhibit cortical thinning
exostosis ( J:79953 )
• 2 of 6 homozygous females display rib exostoses at the costochondral junctions
abnormal bone mineralization ( J:79953 )
• Von Kossa staining of undemineralized sections of mutant tibiae indicated delayed mineralization at the growth plate
• mineralization progresses gradually, with minimal calcification in the most proximal regions
• very wide osteoid seams are observed, indicating prolonged mineralization lag time
osteomalacia ( J:79953 )
• affected female homozygotes show a dramatic increase in osteoid width relative to wild-type controls
• mutant cortical osteoid is not covered by osteoblasts, unlike in wild-type controls
rickets ( J:79953 )
• affected female homozygotes display delayed cartilage calcification in the hypertrophic zone and epiphyseal end of the growth plate
decreased bone resorption ( J:79953 )
• affected female homozygotes exhibit reduced bone resorption as shown by an increase in hypertrophic zone width and increased cartilage remnants within the secondary spongiosa

homeostasis/metabolism
decreased circulating calcium level ( J:79953 )
• affected female homozygotes exhibit significantly lower serum calcium levels (2.27 +/- 016 mmol/L) than wild-type controls (2.47 +/- 0.05 mmol/L)
decreased circulating phosphate level ( J:79953 )
• affected female homozygotes display features of hypophosphatemic rickets
increased circulating alkaline phosphatase level ( J:79953 )
• affected female homozygotes exhibit significantly higher serum alkaline phosphatase levels (497 +/- 121 IU/l) than unaffected wild-type controls (192 +/- 15 IU/l) or affected heterozygous females (338 +/- 61 IU/l)

immune system
abnormal osteoclast physiology ( J:79953 )
• chondrocytes and remnants of the growth plate are found in the mineralized trabeculae, indicating impaired osteoclastic bone resorption

hematopoietic system
abnormal osteoclast physiology ( J:79953 )
• chondrocytes and remnants of the growth plate are found in the mineralized trabeculae, indicating impaired osteoclastic bone resorption




Genotype
MGI:4450916
ht2
Allelic
Composition		 PhexSka1/Phex+
Genetic
Background		 C57BL/6-PhexSka1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
PhexSka1 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 femur ( J:79953 )
• all (71 of 71) heterozygous females display shortened femurs in the hindlimbs
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 femur ( J:79953 )
• all (71 of 71) heterozygous females display shortened femurs in the hindlimbs
abnormal caudal vertebrae morphology ( J:79953 )
• all (71 of 71) heterozygous females exhibit elliptical tail vertebrae
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 dominant hypophosphatemic rickets DOID:0050445 OMIM:307800
 J:79953




Genotype
MGI:4450917
ot3
Allelic
Composition		 PhexSka1/Y
Genetic
Background		 C57BL/6-PhexSka1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
PhexSka1 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 males display an abnormal gait due to abnormal angulation of the hips and knees

limbs/digits/tail
abnormal hindlimb morphology ( J:79953 )
• affected males display bowing and shortening of the hind limbs
abnormal acetabulum morphology ( J:79953 )
• medial displacement of the acetabular cavity
abnormal limb long bone morphology ( J:79953 )
• affected males display shortening and bowing of the long bones in the hindlimbs
short femur ( J:79953 )
• all (31 of 31) hemizygous males display shortened femurs in the hindlimbs
abnormal caudal vertebrae morphology ( J:79953 )
• all (31 of 31) hemizygous males 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 males display shortening and bowing of the long bones in the hindlimbs
short femur ( J:79953 )
• all (31 of 31) hemizygous males display shortened femurs in the hindlimbs
abnormal caudal vertebrae morphology ( J:79953 )
• all (31 of 31) hemizygous males exhibit elliptical tail vertebrae
abnormal pelvic girdle bone morphology ( J:79953 )
• all (31 of 31) hemizygous males 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 hemizygous males have a shorter obturator foramen than unaffected hemizygotes and wild-type controls
abnormal rib morphology ( J:79953 )
• 16 of 31 hemizygous males display rib exostoses at the costochondral junctions
exostosis ( J:79953 )
• 16 of 31 hemizygous males display rib exostoses at the costochondral junctions

homeostasis/metabolism
decreased circulating phosphate level ( J:79953 )
• affected hemizygous males display significantly lower serum phosphorus levels (1.41 +/- 0.18 mmol/L) than wild-type controls (2.33 +/- 0.21 mmol/L)
increased circulating alkaline phosphatase level ( J:79953 )
• affected hemizygous males show significantly higher serum alkaline phosphatase levels (494 +/- 221 IU/l) than wild-type controls (156 +/- 23 IU/l)

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




Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory