Phenotypes Associated with This Genotype

Genotype
MGI:3784505

• Allelic Composition: Gusb^mps/Gusb^mps
• Genetic Background: B6.Cg-Gusb^mps/BrkJ

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

Lysosomal storage disease is evident in Gusb^mps/Gusb^mps mice and is rescued by Tg(GUSB)4Sly/Tg(GUSB)4Sly expression

cellular

abnormal cell morphology ( J:21256 )

• elevation of hexuronic acid levels in tissues indicating glycosaminoglycan storage

abnormal lysosome morphology ( J:21256 )

• lysosomal storage disease

homeostasis/metabolism

abnormal enzyme/coenzyme level ( J:21256 )

• homozygotes exhibit an elevation of many lysosomal enzymes, including beta-hexosaminidase, beta-galactosidase, alpha-mannosidase, acid phosphatase, aryl sulfatase A, and alpha-fucosidase

renal/urinary system

abnormal renal glomerulus morphology ( J:21256 )

• visceral epithelial cells of the glomerulus are distended by enlarged lysosomes containing fine fibrillar material and small fragments of membranous debris

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Sly syndrome		DOID:12803	OMIM:253220	J:21256