|
Symbol Name ID |
Hspg2
perlecan (heparan sulfate proteoglycan 2) MGI:96257 |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Encephalocele |
Occipital encephalocele |
Blepharospasm |
Hydrocephalus |
Abnormality of speech or vocalization |
High pitched voice |
Irritability |
Anxiety |
Attention deficit hyperactivity disorder |
Intellectual disability |
Hyporeflexia |
Gait disturbance |
Waddling gait |
| Disease(s) Associated with HSPG2 | ||||||||||||||
| Schwartz-Jampel syndrome 1 | ||||||||||||||
| Silverman-Handmaker type dyssegmental dysplasia |
| Mouse Phenotypes | intracranial hemorrhage |
abnormal radial glial cell endfoot morphology |
abnormal nervous system morphology |
abnormal brain morphology |
abnormal telencephalon morphology |
increased Schwann cell number |
exencephaly |
abnormal axon morphology |
abnormal internode morphology |
abnormal myelin sheath morphology |
abnormal node of Ranvier morphology |
abnormal paranode morphology |
abnormal neuromuscular synapse morphology |
demyelination |
abnormal action potential |
abnormal endplate potential |
abnormal miniature endplate potential |
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| Availability | Mouse Genotype | |||||||||||||||||
| Hspg2tm1.1Soni/Hspg2tm1.1Soni | ||||||||||||||||||
| Hspg2tm1Nid/Hspg2tm1Nid | ||||||||||||||||||
| Hspg2tm1Ref/Hspg2tm1Ref | ||||||||||||||||||
| Hspg2tm1Soni/Hspg2tm1Soni | ||||||||||||||||||
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 04/16/2024 MGI 6.23 |
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