Phenotypes Associated with This Genotype

Genotype
MGI:3037061

• Allelic Composition: Sgsh^mps3a/Sgsh^mps3a
• Genetic Background: involves: 129X1/SvJ * CD-1 * C57BL/6 * SJL

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

mortality/aging

premature death ( J:72142 )

• most died between 7 and 10 months of age with a small number living to 14 months

behavior/neurological

circling ( J:72142 )

• observed in some mice over 1 year of age

cardiovascular system

abnormal heart morphology ( J:72142 )

• endomysium and perivascular space is often expanded by abnormal fibroblasts and macrophages

abnormal myocardium layer morphology ( J:72142 )

• myocardiocytes ultimately undergo degenerative changes and are replaced by fibroblasts with foamy cytoplasm

abnormal heart valve morphology ( J:72142 )

• valvular cusps and arterial perivascular spaces are also invaded by fibroblasts

cellular

abnormal cell morphology ( J:72142 )

• vacuolated or vesiculated cells with enlarged cytoplasm in:

• fibroblasts

• cerebral and cerebellar neurons as well as other cells in and around the brain, dense inclusions

• dorsal root ganglion

• cells of the eye

• kidney

• cardiac tissues

abnormal lysosome morphology ( J:72142 )

• "zebra body" type storage material identifiable by EM in the brain and skeletal muscle

• lysosomal storage is particularly prominent in the liver and spleen

craniofacial

thick neurocranium ( J:72142 )

• thickened calvarium

hematopoietic system

enlarged spleen ( J:72142 )

immune system

enlarged spleen ( J:72142 )

liver/biliary system

enlarged liver ( J:72142 )

renal/urinary system

abnormal kidney morphology ( J:72142 )

hydronephrosis ( J:72142 )

• unilateral or bilateral hydronephrosis frequently seen

abnormal renal tubule morphology ( J:72142 )

• microvesiculated cytoplasm in the distal convoluted tubules, podocytes, and epithelial cells lining the collecting tubules

distended urinary bladder ( J:72142 )

• at death the bladder is grossly distended and contains 1-2 ml of turbid urine

• heparan sulfate accumulation in the urine

skeleton

thick neurocranium ( J:72142 )

• thickened calvarium

abnormal vertebrae morphology ( J:72142 )

• vertebrae become deformed

vision/eye

cornea opacity ( J:72142 )

• corneal opacity develops around 7 months of age

nervous system

nervous system phenotype ( J:72142 )

N • peripheral nerves were normal

integument

abnormal hair texture ( J:72142 )

disheveled coat ( J:72142 )

• appeared normal at birth but developed a scruffy, ill appearance around 6-7 months of age

muscle

abnormal myocardium layer morphology ( J:72142 )

• myocardiocytes ultimately undergo degenerative changes and are replaced by fibroblasts with foamy cytoplasm

growth/size/body

enlarged liver ( J:72142 )

enlarged spleen ( J:72142 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
mucopolysaccharidosis III		DOID:12801	OMIM:252940	J:72142