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Symbol Name ID |
Naglu
alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB) MGI:1351641 |
| Darker colors indicate more annotations |
| Human Phenotypes | Craniofacial hyperostosis |
Dense calvaria |
Dolichocephaly |
Macrocephaly |
Genu valgum |
Avascular necrosis of the capital femoral epiphysis |
Flexion contracture |
Joint stiffness |
Increased susceptibility to fractures |
Lower limb pain |
Abnormal skeletal morphology |
Hip dysplasia |
Abnormal clavicle morphology |
Abnormal rib morphology |
Thickened ribs |
Scoliosis |
Abnormal form of the vertebral bodies |
Ovoid thoracolumbar vertebrae |
Reduced bone mineral density |
Dysostosis multiplex |
| Disease(s) Associated with NAGLU | ||||||||||||||||||||
| Charcot-Marie-Tooth disease axonal type 2V | ||||||||||||||||||||
| mucopolysaccharidosis III | ||||||||||||||||||||
| mucopolysaccharidosis type IIIB |
| Mouse Phenotypes | abnormal middle ear ossicle morphology |
abnormal stapes morphology |
abnormal spiral ligament morphology |
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| Availability | Mouse Genotype | |||
| Naglutm1Efn/Naglutm1Efn | ||||
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 04/30/2024 MGI 6.23 |
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