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Symbol
Name
ID

Phex
phosphate regulating endopeptidase homolog, X-linked
MGI:107489

Phenotype annotations related to skeleton

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes

Frontal bossing

Enamel hypomineralization

Bowing of the legs

Femoral bowing

Fibular bowing

Genu valgum

Tibial bowing

Trapezoidal distal femoral condyles

Shortening of the talar neck

Flattening of the talar dome

Cupped metaphyses of hand bones

Metaphyseal irregularity

Hypophosphatemic rickets

Bone pain

Abnormal pelvic girdle bone morphology

Rachitic rosary

Spinal canal stenosis

Osteomalacia

Rickets

Osteoarthritis

Disease(s) Associated with PHEX

X-linked dominant hypophosphatemic rickets

Mouse Phenotypes

skeleton phenotype

decreased chondrocyte apoptosis

abnormal craniofacial bone morphology

abnormal cranial suture morphology

abnormal cranium morphology

decreased cranium height

small cranium

short frontal bone

abnormal temporal bone morphology

short mandible

short premaxilla

short maxilla

short nasal bone

domed cranium

abnormal osteoclast physiology

enthesitis

short humerus

short radius

short ulna

abnormal acetabulum morphology

decreased diameter of femur

short femur

increased diameter of femur

short fibula

short tibia

abnormal patella morphology

abnormal limb bone morphology

abnormal limb long bone morphology

camptomelia

abnormal caudal vertebrae morphology

small caudal vertebrae

abnormal skeleton morphology

abnormal long bone morphology

small clavicle

abnormal long bone epiphyseal plate morphology

abnormal long bone epiphyseal plate proliferative zone

abnormal long bone hypertrophic chondrocyte zone

increased width of hypertrophic chondrocyte zone

disorganized long bone epiphyseal plate

increased long bone epiphyseal plate size

abnormal long bone metaphysis morphology

decreased length of long bones

increased diameter of long bones

abnormal pelvic girdle bone morphology

abnormal obturator foramen morphology

abnormal costochondral joint morphology

abnormal rib morphology

abnormal vertebrae morphology

decreased bone mineral density of vertebrae

small vertebrae

abnormal bone structure

decreased bone mineral content

decreased bone mineral density of femur

decreased bone mineral density

increased trabecular bone volume

abnormal compact bone morphology

decreased compact bone thickness

abnormal osteocyte lacunocanalicular system morphology

abnormal osteocyte lacuna morphology

decreased bone mass

exostosis

abnormal fibrocartilage morphology

abnormal joint morphology

abnormal osteoid morphology

abnormal bone mineralization

decreased bone mineralization

osteomalacia

rickets

decreased bone resorption

abnormal chondrocyte physiology

Availability

Mouse Genotype

Phex^Hyp/Phex^Hyp

Phex^Ska1/Phex^Ska1

Phex^Hpr/Phex⁺

Phex^Hyp/Phex⁺

Phex^Hyp/Phex⁺
Tg(Bglap2-Phex)1Ldq/?

Phex^m1Jrt/Phex⁺

Phex^Ska1/Phex⁺

Phex^Hpr/Y

Phex^Hyp-2J/Y

Phex^Hyp-Duk/Y

Phex^Hyp/Y

Phex^m1Jrt/Y

*

Phex^Mhdabap024/Y

Phex^Pug/Y

Phex^Ska1/Y

Phex^tm1.2Mkd/Y

Phex^Hyp/?

Phex^tm1.1Mkd/Y
Tg(BGLAP-cre)1Clem/0 (conditional)

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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