adipose tissue
• mice show a reduction in subcutaneous adipose tissue mass at 12 weeks of age
• mice show a decrease in subcutaneous adipose tissue at 9 months of age, with an overall decrease in adipose tissue mass and a higher frequency of small adipocytes in this depot
• however, no change in interscapular brown adipose tissue mass or lean mass is seen
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• decrease in average adipocyte size in subcutaneous adipose tissue
• subcutaneous adipose tissue shows a change in adipocyte size distribution, with a higher frequency of smaller adipocytes
• however, the percentage of adipose tissue progenitor cells isolated from the stromovascular fraction of epididymal and subcutaneous adipose tissue does not differ
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• mice show a decrease in epididymal adipose tissue at 9 months of age, with an overall decrease in adipose tissue mass and a higher frequency of small adipocytes in this depot
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• mice exhibit partial lipodystrophy
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• white adipose tissue shows an impairment in glucose uptake
• howeover, no difference in skeletal muscle and brown adipose tissue glucose uptake is seen
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endocrine/exocrine glands
• by 12 weeks of age, islets are larger and a 47% increase in islet area is seen
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• secretion of insulin from islets is defective; mutant islets do not show an increase in insulin levels 2 minutes after glucose administration as is seen in controls
• islets do not exhibit an increase in insulin secretion when transitioned from low to high glucose as in control islets
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growth/size/body
• both males and females have decreases in body weight over the first 3 months, with this difference persisting at 6 months
• males weigh 12.8% less than controls at 6 months of age
• however, food and water consumption are unchanged when adjusted for body weight
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• body length is decreased at 12 weeks of age
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homeostasis/metabolism
• secretion of insulin from islets is defective; mutant islets do not show an increase in insulin levels 2 minutes after glucose administration as is seen in controls
• islets do not exhibit an increase in insulin secretion when transitioned from low to high glucose as in control islets
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• fed males exhibit hyperglycemia
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• fed serum insulin levels are elevated in females
• both fasted and fed insulin levels are elevated in males
• however, liver histology, circulating free fatty acids, and triglycerides are unaltered and oxygen consumption, carbon dioxide production, and respiratory exchange ratio are normal
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• mice show a modest, but significant, elevation in serum IGF-1 levels
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• both males and females show an elevation of glucose levels during an intraperitoneal glucose tolerance test
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• both males and females show no decrease in blood glucose during an insulin tolerance test indicating insulin resistance
• euglycemic-hyperinsulinemic clamps show a marked insulin resistance in males, with a 58% reduction in glucose infusion rate and a concomitant decrease in the rate of glucose turnover
• hepatic glucose production is only suppressed by 76% compared to 100% in controls in response to insulin
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integument
• mice show a reduction in subcutaneous adipose tissue mass at 12 weeks of age
• mice show a decrease in subcutaneous adipose tissue at 9 months of age, with an overall decrease in adipose tissue mass and a higher frequency of small adipocytes in this depot
• however, no change in interscapular brown adipose tissue mass or lean mass is seen
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cellular
• white adipose tissue shows an impairment in glucose uptake
• howeover, no difference in skeletal muscle and brown adipose tissue glucose uptake is seen
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
SHORT syndrome | DOID:0111454 |
OMIM:269880 |
J:234657 |