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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Phex
phosphate regulating endopeptidase homolog, X-linked
MGI:107489
125 phenotypes from 12 alleles in 15 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
PhexHpr/Y
involves: C3H/HeH * C57BL/6J 		abnormal bone structure J:187142
abnormal vertebrae morphology J:187142
decreased bone mineral density J:187142
decreased circulating phosphate level J:187142
increased circulating alkaline phosphatase level J:187142
increased diameter of femur J:187142
short femur J:187142
PhexHpr/Phex+
involves: C3H/HeH * C57BL/6J 		abnormal bone structure J:187142
abnormal long bone morphology J:187142
abnormal vertebrae morphology J:187142
decreased bone mineral density J:187142
decreased circulating phosphate level J:187142
decreased length of long bones J:187142
increased circulating alkaline phosphatase level J:187142
increased diameter of femur J:187142
short femur J:187142
PhexHyp-2J/Y
C57BL/6-PhexHyp-2J/J 		abnormal craniofacial bone morphology J:88352
abnormal patella morphology J:88352
abnormal scala tympani morphology J:88352
decreased body weight J:88352
decreased bone mineral density J:88352
decreased circulating calcium level J:88352
decreased circulating potassium level J:88352
decreased length of long bones J:88352
disorganized long bone epiphyseal plate J:88352
normal hearing/vestibular/ear phenotype J:88352
increased diameter of long bones J:88352
short femur J:88352
short fibula J:88352
short hindlimb J:88352
short tail J:88352
short tibia J:88352
small cranium J:88352
PhexHyp-2J/Phex+
C57BL/6-PhexHyp-2J/J 		abnormal postnatal growth/weight/body size J:88352
short hindlimb J:88352
short tail J:88352
PhexHyp-Duk/Y
B6.C-PhexHyp-Duk/J 		abnormal cranium morphology J:132678
abnormal otic capsule morphology J:132678
normal behavior/neurological phenotype J:132678
decreased body size J:132678
normal hearing/vestibular/ear phenotype J:132678
increased or absent threshold for auditory brainstem response J:132678
PhexHyp-Duk/Y
involves: BALB/cAnBomUrd 		abnormal cochlea morphology J:88352
abnormal craniofacial bone morphology J:88352
abnormal gait J:132678
abnormal limb bone morphology J:88352
abnormal otic capsule morphology J:132678
abnormal patella morphology J:88352
abnormal scala tympani morphology J:88352
abnormal temporal bone morphology J:88352
abnormal vestibular saccule morphology J:132678
circling J:88352
cochlear ganglion degeneration J:88352, J:132678
decreased body weight J:88352
decreased bone mineral density J:88352
decreased circulating calcium level J:88352
decreased circulating potassium level J:88352
decreased length of long bones J:88352
decreased total body fat amount J:88352
disorganized long bone epiphyseal plate J:88352
distended Reissner membrane J:132678
ear inflammation J:132678
head bobbing J:132678
normal hearing/vestibular/ear phenotype J:132678
impaired hearing J:132678
increased diameter of long bones J:88352
increased or absent threshold for auditory brainstem response J:88352, J:132678
increased susceptibility to otitis media J:132678
organ of Corti degeneration J:88352
postnatal growth retardation J:88352
short femur J:88352
short fibula J:88352
short hindlimb J:88352
short maxilla J:88352
short tail J:88352
short tibia J:88352
small cranium J:88352
unilateral deafness J:132678
PhexHyp-Duk/Phex+
involves: BALB/cAnBomUrd 		circling J:88352
postnatal growth retardation J:88352
short hindlimb J:88352
short tail J:88352
PhexHyp/Y
B6.Cg-PhexHyp/J 		abnormal caudal vertebrae morphology J:87808
abnormal intestinal absorption J:137343
abnormal patella morphology J:88352
decreased body weight J:88352
decreased bone mineral density J:88352
decreased bone mineralization J:67356
decreased circulating calcium level J:88352
decreased circulating phosphate level J:87808
decreased circulating potassium level J:88352
decreased length of long bones J:88352
disorganized long bone epiphyseal plate J:88352
increased diameter of long bones J:88352
increased or absent threshold for auditory brainstem response J:88352
osteomalacia J:87808
short femur J:88352
short fibula J:88352
short hindlimb J:88352
short tail J:88352
short tibia J:88352
small caudal vertebrae J:87808
PhexHyp/Phex+
B6.Cg-PhexHyp/J 		abnormal caudal vertebrae morphology J:87808
abnormal intestinal absorption J:137343
abnormal postnatal growth/weight/body size J:88352
normal cellular phenotype J:87808
decreased circulating phosphate level J:87808
osteomalacia J:87808
short hindlimb J:88352
short tail J:88352
small caudal vertebrae J:87808
PhexHyp/Y
involves: C3H/HeSnJ * C57BL/6J 		abnormal intestinal absorption J:17152
decreased circulating phosphate level J:17152
PhexHyp/Y
involves: C57BL/6 		abnormal renal glucose reabsorption J:8335
abnormal urine nucleotide level J:8335
decreased circulating phosphate level J:8335
increased circulating alkaline phosphatase level J:8335
increased urine phosphate level J:8335
PhexHyp/?
involves: C57BL/6J 		abnormal chondrocyte physiology J:99866
abnormal fibrocartilage morphology J:192371
decreased circulating phosphate level J:99866
enthesitis J:192371
increased width of hypertrophic chondrocyte zone J:99866
rickets J:99866
PhexHyp/Y
involves: C57BL/6J 		abnormal cranial suture morphology J:1654
abnormal cranium morphology J:1654
decreased body weight J:17152
decreased circulating phosphate level J:17152
decreased cranium height J:1654
decreased intestinal calcium absorption J:17152
domed cranium J:1654
short frontal bone J:1654
short mandible J:1654
short nasal bone J:1654
short premaxilla J:1654
PhexHyp/Phex+
involves: C57BL/6J 		decreased body weight J:17152
decreased circulating phosphate level J:17152
decreased intestinal calcium absorption J:17152
PhexHyp/Y
Not Specified 		abnormal bone mineralization J:110579
abnormal long bone hypertrophic chondrocyte zone J:110579
abnormal osteocyte lacuna morphology J:131043
abnormal osteocyte lacunocanalicular system morphology J:131043
abnormal renal phosphate reabsorption J:131043
abnormal vitamin D level J:110579
decreased body length J:110579
decreased body weight J:110579
decreased bone mineral density J:110579
decreased circulating phosphate level J:110579, J:131043
decreased length of long bones J:131043
osteomalacia J:131043
rickets J:110579
short femur J:131043
PhexHyp/Phex+
Tg(Bglap2-Phex)1Ldq/?
involves: C57BL/6J 		abnormal bone mineralization J:74324
decreased bone mass J:74324
decreased circulating phosphate level J:74324
osteomalacia J:74324
rickets J:74324
PhexHyp/PhexHyp
B6.Cg-PhexHyp/J 		abnormal caudal vertebrae morphology J:87808
decreased circulating phosphate level J:87808
maternal effect J:87808
osteomalacia J:87808
small caudal vertebrae J:87808
PhexHyp/PhexHyp
involves: C3H/HeSnJ * C57BL/6J 		abnormal intestinal absorption J:17152
decreased circulating phosphate level J:17152
PhexHyp/PhexHyp
involves: C57BL/6J 		abnormal cranial suture morphology J:1654
abnormal cranium morphology J:1654
decreased cranium height J:1654
domed cranium J:1654
short frontal bone J:1654
short mandible J:1654
short nasal bone J:1654
short premaxilla J:1654
Phexm1Jrt/Phex+
B6.129S1-PhexM1Jrt 		abnormal joint morphology J:196537
abnormal pelvic girdle bone morphology J:196537
camptomelia J:196537
decreased body length J:196537
decreased body size J:196537
decreased body weight J:196537
decreased circulating calcium level J:196537
decreased circulating phosphate level J:196537
decreased length of long bones J:196537
increased circulating alkaline phosphatase level J:196537
small vertebrae J:196537
Phexm1Jrt/Y
B6.129S1-PhexM1Jrt 		abnormal compact bone morphology J:196537
abnormal long bone epiphyseal plate morphology J:196537
abnormal long bone epiphyseal plate proliferative zone J:196537
abnormal osteoid morphology J:196537
decreased body weight J:196537
decreased bone mineral content J:196537
decreased bone mineral density J:196537
decreased circulating calcium level J:196537
decreased circulating phosphate level J:196537
decreased diameter of femur J:196537
increased circulating alkaline phosphatase level J:196537
increased long bone epiphyseal plate size J:196537
osteomalacia J:196537
normal skeleton phenotype J:196537
PhexMhdabap012/PhexMhdabap012
C3HeB/FeJ-PhexMhdabap012 		circling J:183993
decreased circulating phosphate level J:183993
increased circulating alkaline phosphatase level J:183993
short hindlimb J:183993
PhexMhdabap024/Y
C3HeB/FeJ-PhexMhdabap024 		abnormal blood homeostasis J:264682
abnormal compact bone morphology J:264682
normal cardiovascular system phenotype J:264682
decreased bone mineral density J:264682
decreased circulating C-reactive protein level J:264682
decreased circulating phosphate level J:264682
decreased systemic arterial systolic blood pressure J:264682
decreased urine calcium level J:264682
decreased vitamin D level J:264682
increased activity of parathyroid J:264682
increased circulating parathyroid hormone level J:264682
increased urine creatinine level J:264682
normal liver/biliary system phenotype J:264682
oliguria J:264682
normal renal/urinary system phenotype J:264682
PhexMhdabap024/Phex+
C3HeB/FeJ-PhexMhdabap024 		abnormal blood homeostasis J:264682
normal cardiovascular system phenotype J:264682
decreased circulating phosphate level J:264682
decreased urine calcium level J:264682
increased activity of parathyroid J:264682
increased circulating parathyroid hormone level J:264682
increased urine phosphate level J:264682
normal renal/urinary system phenotype J:264682
PhexMhdabap024/PhexMhdabap024
C3HeB/FeJ-PhexMhdabap024 		circling J:183993
decreased body size J:183993
decreased circulating alkaline phosphatase level J:183993
decreased circulating phosphate level J:183993
PhexPug/Phex+
involves: C57BL/6J 		decreased body size J:136463
short hindlimb J:136463
short tail J:136463
PhexPug/Y
involves: C57BL/6J 		abnormal bone mineralization J:136463
abnormal skeleton morphology J:136463
abnormal tail development J:136463
decreased body length J:136463
decreased body size J:136463
decreased bone mineral density J:136463
decreased bone mineral density of vertebrae J:136463
decreased chondrocyte apoptosis J:136463
decreased circulating calcium level J:136463
decreased circulating phosphate level J:136463
disorganized long bone epiphyseal plate J:136463
disproportionate dwarf J:136463
increased trabecular bone volume J:136463
short hindlimb J:136463
short tail J:136463
PhexPug/PhexPug
involves: C57BL/6J 		disproportionate dwarf J:136463
PhexSka1/Phex+
C57BL/6-PhexSka1 		abnormal acetabulum morphology J:79953
abnormal caudal vertebrae morphology J:79953
abnormal gait J:79953
abnormal limb long bone morphology J:79953
abnormal obturator foramen morphology J:79953
abnormal pelvic girdle bone morphology J:79953
abnormal rib morphology J:79953
abnormal skeleton morphology J:79953
decreased bone mineral density J:79953
decreased bone mineral density of femur J:79953
decreased circulating phosphate level J:79953
decreased compact bone thickness J:79953
exostosis J:79953
increased circulating alkaline phosphatase level J:79953
short femur J:79953
short fibula J:79953
short hindlimb J:79953
short humerus J:79953
short radius J:79953
short tibia J:79953
short ulna J:79953
small clavicle J:79953
PhexSka1/Y
C57BL/6-PhexSka1 		abnormal acetabulum morphology J:79953
abnormal caudal vertebrae morphology J:79953
abnormal gait J:79953
abnormal hindlimb morphology J:79953
abnormal limb long bone morphology J:79953
abnormal obturator foramen morphology J:79953
abnormal pelvic girdle bone morphology J:79953
abnormal rib morphology J:79953
abnormal skeleton morphology J:79953
decreased circulating phosphate level J:79953
exostosis J:79953
increased circulating alkaline phosphatase level J:79953
short femur J:79953
short fibula J:79953
short hindlimb J:79953
short humerus J:79953
short radius J:79953
short tibia J:79953
short ulna J:79953
small clavicle J:79953
PhexSka1/PhexSka1
C57BL/6-PhexSka1 		abnormal acetabulum morphology J:79953
abnormal bone mineralization J:79953
abnormal caudal vertebrae morphology J:79953
abnormal costochondral joint morphology J:79953
abnormal gait J:79953
abnormal limb long bone morphology J:79953
abnormal long bone epiphyseal plate morphology J:79953
abnormal long bone metaphysis morphology J:79953
abnormal osteoclast physiology J:79953
abnormal pelvic girdle bone morphology J:79953
decreased bone mineral density J:79953
decreased bone mineral density of femur J:79953
decreased bone resorption J:79953
decreased circulating calcium level J:79953
decreased circulating phosphate level J:79953
decreased compact bone thickness J:79953
exostosis J:79953
increased circulating alkaline phosphatase level J:79953
increased width of hypertrophic chondrocyte zone J:79953
osteomalacia J:79953
rickets J:79953
short femur J:79953
short hindlimb J:79953
Phextm1.1Mkd/Y
Tg(BGLAP-cre)1Clem/0
B6.Cg-Phextm1.1Mkd Tg(BGLAP-cre)1Clem 		abnormal osteocyte lacuna morphology J:131043
abnormal osteocyte lacunocanalicular system morphology J:131043
abnormal renal phosphate reabsorption J:131043
decreased circulating phosphate level J:131043
decreased length of long bones J:131043
osteomalacia J:131043
short femur J:131043
Phextm1.2Mkd/Y
B6.129-Phextm1.2Mkd 		abnormal osteocyte lacuna morphology J:131043
abnormal osteocyte lacunocanalicular system morphology J:131043
abnormal renal phosphate reabsorption J:131043
decreased circulating phosphate level J:131043
decreased length of long bones J:131043
osteomalacia J:131043
short femur J:131043
Tg(Bglap2-Phex)1Ldq/?
involves: C57BL/6J 		no abnormal phenotype detected J:74324
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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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11/12/2024
MGI 6.24 		The Jackson Laboratory