|
Symbol Name ID |
Hspg2
perlecan (heparan sulfate proteoglycan 2) MGI:96257 |
| Darker colors indicate more annotations |
| Human Phenotypes | Low anterior hairline |
Calvarial skull defect |
Micrognathia |
Trismus |
Malar flattening |
Microcephaly |
Wormian bones |
Encephalocele |
Occipital encephalocele |
Mask-like facies |
Flat face |
Full cheeks |
Everted lower lip vermilion |
Deep philtrum |
Long philtrum |
Cleft palate |
High palate |
Pursed lips |
Narrow mouth |
Supernumerary tooth |
Odontogenic neoplasm |
Dental malocclusion |
Concave nasal ridge |
Prominent nasal bridge |
Wide nasal bridge |
Abnormal eyebrow morphology |
Long eyelashes in irregular rows |
Distichiasis |
Blepharophimosis |
Narrow palpebral fissure |
Blepharospasm |
| Disease(s) Associated with HSPG2 | |||||||||||||||||||||||||||||||
| Schwartz-Jampel syndrome 1 | |||||||||||||||||||||||||||||||
| Silverman-Handmaker type dyssegmental dysplasia |
| Mouse Phenotypes | abnormal craniofacial morphology |
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 |
flat face |
cleft palate |
short snout |
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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 04/09/2024 MGI 6.23 |
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