Phenotypes Associated with This Genotype

Genotype
MGI:2451063

• Allelic Composition: Gusb^tm1Sly/Gusb^tm1Sly
• Genetic Background: involves: 129X1/SvJ * C57BL/6J

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

mortality/aging

postnatal lethality ( J:81792 )

• fewer than the expected numbers of homozygotes are observed at weaning

craniofacial

short face ( J:81792 )

• by weaning, mutants have shortened faces

growth/size/body

short face ( J:81792 )

• by weaning, mutants have shortened faces

decreased body size ( J:81792 )

• slightly smaller at weaning

postnatal growth retardation ( J:81792 )

• growth retardation with age

limbs/digits/tail

abnormal limb bone morphology ( J:81792 )

• extremities become shortened with age

short limbs ( J:81792 )

skeleton

abnormal limb bone morphology ( J:81792 )

• extremities become shortened with age

decreased length of long bones ( J:81792 )

increased diameter of long bones ( J:81792 )

• long bones are broad

abnormal articular cartilage morphology ( J:81792 )

• articular cartilage is distorted with chondrocytes and stromal cells in the synovium and meniscus, and shows cytoplasmic distention caused by lysosomal storage

abnormal epiphyseal plate morphology ( J:81792 )

• growth plate is thickened

• chondrocytes in the growth plate are haphazardly arranged

behavior/neurological

abnormal gait ( J:81792 )

• hobbled gait

cellular

abnormal lysosome morphology ( J:81792 )

• abundant lysosomal storage in liver, kidney, leptomeningeal cells, cornea, spleen, neurons, and retinal pigment epithelium

accumulation of giant lysosomes in kidney/renal tubule cells ( J:81792 )

homeostasis/metabolism

increased urine glycosaminoglycan level ( J:81792 )

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

renal/urinary system

accumulation of giant lysosomes in kidney/renal tubule cells ( J:81792 )

increased urine glycosaminoglycan level ( J:81792 )

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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Sly syndrome		DOID:12803	OMIM:253220	J:81792