Phenotypes Associated with This Genotype

Genotype
MGI:2451065

• Allelic Composition: Gusb^tm2Sly/Gusb^tm2Sly
• Genetic Background: involves: 129X1/SvJ * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

craniofacial

abnormal facial morphology ( J:81792 )

• facial dysmorphism is first observed around 3 months of age and increases slowly with age

skeleton

abnormal long bone morphology ( J:81792 )

• long bones are sclerotic, but to a much lesser extent than in homozygous Gsub^tm1Sly mice

decreased length of long bones ( J:81792 )

• long bones are shortened but to a much lesser extent than in homozygous Gsub^tm1Sly mice

increased diameter of long bones ( J:81792 )

• long bones are broad but to a much lesser extent than in homozygous Gsub^tm1Sly mice

abnormal articular cartilage morphology ( J:81792 )

• articular cartilage is somewhat distorted with chondrocytes

cellular

abnormal lysosome morphology ( J:81792 )

• lysosomal storage in liver, kidney, leptomeningeal cells, cornea, spleen, neurons, and retinal pigment epithelium, but to a lesser extent than in homozygous Gsub^tm1Sly mice

homeostasis/metabolism

increased urine glycosaminoglycan level ( J:81792 )

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

renal/urinary system

increased urine glycosaminoglycan level ( J:81792 )

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

growth/size/body

abnormal facial morphology ( J:81792 )

• 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