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Symbol
Name
ID
Hspg2
perlecan (heparan sulfate proteoglycan 2)
MGI:96257
Phenotype annotations related to limbs/digits/tail
Darker colors indicate more annotations
Human Phenotypes
Abnormality of limbs
Bowing of the long bones
Anterior bowing of long bones
Bowing of the legs
Genu valgum
Clubbing of fingers
Flexion contracture of toe
Abnormal femoral epiphysis morphology
Coxa valga
Coxa vara
Metatarsus valgus
Abnormal metaphysis morphology
Metaphyseal widening
Pes planus
Talipes equinovarus
Protrusio acetabuli
Hip contracture
Congenital hip dislocation
Quadriceps muscle weakness
Joint contracture of the hand
Elbow dislocation
Wrist flexion contracture
Limb undergrowth
Micromelia
Disease(s) Associated with HSPG2
Schwartz-Jampel syndrome 1
Silverman-Handmaker type dyssegmental dysplasia

Mouse Phenotypes
abnormal forelimb morphology
abnormal humerus morphology
bowed humerus
increased diameter of humerus
abnormal hindlimb morphology
abnormal femur head morphology
abnormal femur neck morphology
short femur neck
short femur
short limbs
Availability Mouse Genotype
Hspg2tm1Nid/Hspg2tm1Nid
Hspg2tm1Rdgr/Hspg2tm1Rdgr
Hspg2tm1Ref/Hspg2tm1Ref

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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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory