craniofacial
• facial dysmorphism is first observed around 3 months of age and increases slowly with age
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skeleton
• long bones are sclerotic, but to a much lesser extent than in homozygous Gsubtm1Sly mice
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• long bones are shortened but to a much lesser extent than in homozygous Gsubtm1Sly mice
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• long bones are broad but to a much lesser extent than in homozygous Gsubtm1Sly mice
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• articular cartilage is somewhat distorted with chondrocytes
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cellular
• lysosomal storage in liver, kidney, leptomeningeal cells, cornea, spleen, neurons, and retinal pigment epithelium, but to a lesser extent than in homozygous Gsubtm1Sly mice
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homeostasis/metabolism
• 3-fold increase in glycosaminoglycan levels in urine than in wild-type
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renal/urinary system
• 3-fold increase in glycosaminoglycan levels in urine than in wild-type
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growth/size/body
• facial dysmorphism is first observed around 3 months of age and increases slowly with age
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Sly syndrome | DOID:12803 |
OMIM:253220 |
J:81792 |