Symbol Name ID |
Hspg2
perlecan (heparan sulfate proteoglycan 2) MGI:96257 |
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 |
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Availability | Mouse Genotype | ||||||||||
Hspg2tm1Nid/Hspg2tm1Nid | |||||||||||
Hspg2tm1Rdgr/Hspg2tm1Rdgr | |||||||||||
Hspg2tm1Ref/Hspg2tm1Ref |
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 |
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