Mouse Genome Informatics
hm
    Sgshmps3a/Sgshmps3a
involves: 129X1/SvJ * CD-1 * C57BL/6 * SJL
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• most died between 7 and 10 months of age with a small number living to 14 months

behavior/neurological
• observed in some mice over 1 year of age

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

cellular
• 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
• "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
• thickened calvarium

hematopoietic system

immune system

liver/biliary system

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

skeleton
• thickened calvarium
• vertebrae become deformed

vision/eye
• corneal opacity develops around 7 months of age

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

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

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