Analysis Tools
mortality/aging
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• 27% of pups in NMRI background and 10-15% in C57BL/6 background died suddenly around weaning age caused by inanition after 1 to 2 days of anorexia
• death occurred in other animals between the ages of 8 and 12 months
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respiratory system
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• at the end of their lifespan 8 to 12 month of age
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behavior/neurological
abnormal gait
(
J:76937
)
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• at the end of their lifespan 8 to 12 month of age
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homeostasis/metabolism
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• mild hypoproteinemia in 8 months or older animals
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• in penis, forehead developed at 4 to 6 weeks of age and worsened in mice that survived past the 21 days
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eyelid edema
(
J:76937
)
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• developed at 4 to 6 weeks of age and worsened in mice that survived past the 21 days
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• developed at 4 to 6 weeks of age and worsened in mice that survived past the 21 days
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skin edema
(
J:76937
)
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• developed at 4 to 6 weeks of age and worsened in mice that survived past the 21 days
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• prominent oligosacchariduria at 1 to 2 month, indicative of sialidosis
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vision/eye
eyelid edema
(
J:76937
)
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• developed at 4 to 6 weeks of age and worsened in mice that survived past the 21 days
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skeleton
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• of the cervical and thoracic spine and thoracic spine became prominent by the age of 6 months
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muscle
nervous system
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• vacuolated microglia and perivascular macrophages in brain
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• extensive storage in the epithelial cells of the choroid plexi and in the endothelial cells of the ependymal layer
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• vacuolated neurons sparsely detected throughout the parenchyma
• no significant cerebellar Purkinje cell degeneration
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growth/size/body
eyelid edema
(
J:76937
)
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• developed at 4 to 6 weeks of age and worsened in mice that survived past the 21 days
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• about 25% less weight at birth compared to heterozygous or wild-type littermates
• loss of weight at the end of their life span 8 to 12 month of age
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• starting at 6 weeks of age
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• a progressive increase on total cell count up to 5 months
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renal/urinary system
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• the earliest and most affected lysosome vacuolation
• proximal more than distal and collecting tubules were extensively vacuolated already at 1 month of age
• at 3 months, the epithelial cell of the glomeruli and the Bowman capsule were affected
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• prominent oligosacchariduria at 1 to 2 month, indicative of sialidosis
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• enlarged kidneys with a markedly dilated renal pelvis
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• severely distended bladder starting at 6 months of age
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cellular
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• prominent vacuolation in all lymphocytes, monocytes and eosinophils, but not in neutrophils
• extensive vacuolation of some cells in most of the systemic organs
• overt abnormalities in the gastrointestinal tract were not evident in the adult mutant mice
• mutant pups that had succumbed suddenly at weaning show the epithelial cells of the villi were markedly dilated with large, apical vacuoles
• inconspicuous lysosomal storage was detected in the heart, skeletal muscle and lung with exception of the endothelial cells lining the capillaries
• in eye, cytoplasmic vacuolation restrictive of the epithelial cell of the ciliary body and the conjunctiva
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• the earliest and most affected lysosome vacuolation
• proximal more than distal and collecting tubules were extensively vacuolated already at 1 month of age
• at 3 months, the epithelial cell of the glomeruli and the Bowman capsule were affected
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hematopoietic system
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• appeared ballooned
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• starting at 6 weeks of age
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• a progressive increase on total cell count up to 5 months
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• vacuolated microglia and perivascular macrophages in brain
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immune system
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• appeared ballooned
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• starting at 6 weeks of age
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• a progressive increase on total cell count up to 5 months
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• vacuolated microglia and perivascular macrophages in brain
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liver/biliary system
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• appeared ballooned
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cardiovascular system
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• appeared ballooned
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integument
skin edema
(
J:76937
)
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• developed at 4 to 6 weeks of age and worsened in mice that survived past the 21 days
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• hyperkeratosis of the stomach in mice showing premature death at around weaning
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craniofacial
eyelid edema
(
J:76937
)
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• developed at 4 to 6 weeks of age and worsened in mice that survived past the 21 days
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| glycoproteinosis | DOID:3343 |
OMIM:256550 |
J:76937 | |
