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Phenotypes Associated with This Genotype
Genotype
MGI:3037061
Allelic
Composition
Sgshmps3a/Sgshmps3a
Genetic
Background
involves: 129X1/SvJ * CD-1 * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sgshmps3a mutation (1 available); any Sgsh mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most died between 7 and 10 months of age with a small number living to 14 months (J:72142)
• most died between 7 and 10 months of age with a small number living to 14 months (J:72142)

behavior/neurological
• observed in some mice over 1 year of age (J:72142)
• observed in some mice over 1 year of age (J:72142)

cardiovascular system
• endomysium and perivascular space is often expanded by abnormal fibroblasts and macrophages (J:72142)
• endomysium and perivascular space is often expanded by abnormal fibroblasts and macrophages (J:72142)
• myocardiocytes ultimately undergo degenerative changes and are replaced by fibroblasts with foamy cytoplasm (J:72142)
• myocardiocytes ultimately undergo degenerative changes and are replaced by fibroblasts with foamy cytoplasm (J:72142)
• valvular cusps and arterial perivascular spaces are also invaded by fibroblasts (J:72142)
• valvular cusps and arterial perivascular spaces are also invaded by fibroblasts (J:72142)

cellular
• vacuolated or vesiculated cells with enlarged cytoplasm in: (J:72142)
• fibroblasts (J:72142)
• cerebral and cerebellar neurons as well as other cells in and around the brain, dense inclusions (J:72142)
• dorsal root ganglion (J:72142)
• cells of the eye (J:72142)
• kidney (J:72142)
• cardiac tissues (J:72142)
• vacuolated or vesiculated cells with enlarged cytoplasm in: (J:72142)
• fibroblasts (J:72142)
• cerebral and cerebellar neurons as well as other cells in and around the brain, dense inclusions (J:72142)
• dorsal root ganglion (J:72142)
• cells of the eye (J:72142)
• kidney (J:72142)
• cardiac tissues (J:72142)
• "zebra body" type storage material identifiable by EM in the brain and skeletal muscle (J:72142)
• lysosomal storage is particularly prominent in the liver and spleen (J:72142)
• "zebra body" type storage material identifiable by EM in the brain and skeletal muscle (J:72142)
• lysosomal storage is particularly prominent in the liver and spleen (J:72142)

craniofacial
• thickened calvarium (J:72142)
• thickened calvarium (J:72142)

hematopoietic system

immune system

liver/biliary system

renal/urinary system
• unilateral or bilateral hydronephrosis frequently seen (J:72142)
• unilateral or bilateral hydronephrosis frequently seen (J:72142)
• microvesiculated cytoplasm in the distal convoluted tubules, podocytes, and epithelial cells lining the collecting tubules (J:72142)
• microvesiculated cytoplasm in the distal convoluted tubules, podocytes, and epithelial cells lining the collecting tubules (J:72142)
• at death the bladder is grossly distended and contains 1-2 ml of turbid urine (J:72142)
• heparan sulfate accumulation in the urine (J:72142)
• at death the bladder is grossly distended and contains 1-2 ml of turbid urine (J:72142)
• heparan sulfate accumulation in the urine (J:72142)

skeleton
• thickened calvarium (J:72142)
• thickened calvarium (J:72142)
• vertebrae become deformed (J:72142)
• vertebrae become deformed (J:72142)

vision/eye
• corneal opacity develops around 7 months of age (J:72142)
• corneal opacity develops around 7 months of age (J:72142)

nervous system
N
• peripheral nerves were normal (J:72142)
• peripheral nerves were normal (J:72142)

integument
• appeared normal at birth but developed a scruffy, ill appearance around 6-7 months of age (J:72142)
• appeared normal at birth but developed a scruffy, ill appearance around 6-7 months of age (J:72142)

Mouse Models of Human Disease
OMIM ID Ref(s)
Mucopolysaccharidosis, Type IIIA; MPS3A 252900 J:72142


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory