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Symbol
Name
ID
Hspg2
perlecan (heparan sulfate proteoglycan 2)
MGI:96257
Phenotype annotations related to skeleton
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Arthrogryposis multiplex congenita
Flexion contracture of toe
Hip contracture
Joint contracture of the hand
Shoulder flexion contracture
Wrist flexion contracture
Malar flattening
Micrognathia
Trismus
Microcephaly
Calvarial skull defect
Wormian bones
Short neck
Abnormality of femoral epiphysis
Coxa valga
Coxa vara
Abnormality of the metaphysis
Metaphyseal widening
Bowing of the long bones
Anterior bowing of long bones
Genu valgum
Metatarsus valgus
Protrusio acetabuli
Congenital hip dislocation
Elbow dislocation
Micromelia
Abnormality of epiphysis morphology
Short long bone
Abnormality of pelvic girdle bone morphology
Hip dysplasia
Abnormality of the ribs
Sprengel anomaly
Pectus carinatum
Pectus excavatum
Thoracic hypoplasia
Narrow chest
Anisospondyly
Platyspondyly
Coronal cleft vertebrae
Abnormal vertebral ossification
Abnormally straight spine
Hyperlordosis
Lumbar hyperlordosis
Kyphosis
Kyphoscoliosis
Scoliosis
Spinal rigidity
Increased bone mineral density
Osteoporosis
Joint stiffness
Skeletal dysplasia
Delayed skeletal maturation
Disease(s) Associated with HSPG2
Schwartz-Jampel syndrome 1
Silverman-Handmaker type dyssegmental dysplasia

Mouse Phenotypes
skeleton phenotype
decreased chondrocyte proliferation
wide cranial sutures
abnormal cranium morphology
decreased cranium height
absent frontal bone
abnormal occipital bone morphology
absent parietal bone
abnormal sphenoid bone morphology
absent neurocranium
abnormal ethmoid bone morphology
short mandible
short nasal bone
domed cranium
increased osteoclast cell number
abnormal osteoclast morphology
osteoarthritis
abnormal humerus morphology
bowed humerus
increased diameter of humerus
abnormal femur head morphology
abnormal femur neck morphology
short femur neck
short femur
abnormal skeleton morphology
abnormal long bone morphology
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
abnormal long bone epiphysis morphology
abnormal long bone metaphysis morphology
decreased length of long bones
increased diameter of long bones
abnormal sternum morphology
abnormal pelvic girdle bone morphology
abnormal rib morphology
abnormal vertebral column morphology
abnormal intervertebral disk development
abnormal spine curvature
abnormal vertebral body morphology
enlarged vertebral body
abnormal bone structure
abnormal bone marrow cavity morphology
abnormal bone marrow morphology
increased compact bone thickness
abnormal trabecular bone morphology
abnormal cartilage morphology
abnormal cartilage development
abnormal chondrocyte morphology
abnormal joint morphology
chondrodystrophy
abnormal bone ossification
decreased bone mineralization
abnormal endochondral bone ossification
delayed bone ossification
Availability Mouse Genotype
Hspg2tm1.1Rdgr/Hspg2tm1.1Rdgr *
Hspg2tm1.1Soni/Hspg2tm1.1Soni
Hspg2tm1Nid/Hspg2tm1Nid
Hspg2tm1Rdgr/Hspg2tm1Rdgr
Hspg2tm1Ref/Hspg2tm1Ref

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/13/2018
MGI 6.13
The Jackson Laboratory