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Symbol
Name
ID

Hspg2
perlecan (heparan sulfate proteoglycan 2)
MGI:96257

Phenotype annotations related to muscle

Darker colors indicate more annotations

Human Phenotypes

Flexion contracture of toe

Hip contracture

Quadriceps muscle weakness

Joint contracture of the hand

Wrist flexion contracture

Flexion contracture

Arthrogryposis multiplex congenita

Shoulder flexion contracture

Hypertonia

EMG abnormality

EMG: myotonic discharges

Muscle stiffness

Muscle weakness

Myotonia

Percussion myotonia

Skeletal muscle atrophy

Skeletal muscle hypertrophy

Myopathy

Disease(s) Associated with HSPG2

Schwartz-Jampel syndrome 1

Silverman-Handmaker type dyssegmental dysplasia

Mouse Phenotypes		abnormal myocardium layer morphology	abnormal myocardium compact layer morphology	abnormal muscle morphology	abnormal skeletal muscle fiber morphology	increased variability of skeletal muscle fiber size	centrally nucleated skeletal muscle fibers	abnormal skeletal muscle fiber type ratio	skeletal muscle hyperplasia	abnormal muscle electrophysiology
Availability	Mouse Genotype	abnormal myocardium layer morphology	abnormal myocardium compact layer morphology	abnormal muscle morphology	abnormal skeletal muscle fiber morphology	increased variability of skeletal muscle fiber size	centrally nucleated skeletal muscle fibers	abnormal skeletal muscle fiber type ratio	skeletal muscle hyperplasia	abnormal muscle electrophysiology
	Hspg2^tm1.1Soni/Hspg2^tm1.1Soni
	Hspg2^tm1Rdgr/Hspg2^tm1Rdgr
	Hspg2^tm1Ref/Hspg2^tm1Ref

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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