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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Gusbtm3Sly
targeted mutation 3, William S Sly
MGI:2451061
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Gusbtm3Sly/Gusbtm3Sly involves: 129X1/SvJ * C57BL/6J MGI:2451066


Genotype
MGI:2451066
hm1
Allelic
Composition
Gusbtm3Sly/Gusbtm3Sly
Genetic
Background
involves: 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gusbtm3Sly mutation (1 available); any Gusb mutation (44 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• facial dysmorphism is first observed around 3 months of age and increases slowly with age

skeleton
• long bones are sclerotic, but to a much lesser extent than in homozygous Gsubtm1Sly mice
• long bones are shortened but to a much lesser extent than in homozygous Gsubtm1Sly mice
• long bones are broad but to a much lesser extent than in homozygous Gsubtm1Sly mice
• articular cartilage is somewhat distorted with chondrocytes

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

homeostasis/metabolism
• 3-fold increase in glycosaminoglycan levels in urine than in wild-type

renal/urinary system
• 3-fold increase in glycosaminoglycan levels in urine than in wild-type

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





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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
10/29/2024
MGI 6.24
The Jackson Laboratory