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Phenotypes Associated with This Genotype
Genotype
MGI:6275834
Allelic
Composition
Pik3r1tm1.1Geno/Pik3r1+
Genetic
Background
involves: C57BL/6 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pik3r1tm1.1Geno mutation (0 available); any Pik3r1 mutation (55 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
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
• 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
• 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
• mice exhibit partial lipodystrophy
• white adipose tissue shows an impairment in glucose uptake
• howeover, no difference in skeletal muscle and brown adipose tissue glucose uptake is seen

endocrine/exocrine glands
• by 12 weeks of age, islets are larger and a 47% increase in islet area is seen
• 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

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
• body length is decreased at 12 weeks of age

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
• fed males exhibit hyperglycemia
• 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
• mice show a modest, but significant, elevation in serum IGF-1 levels
• both males and females show an elevation of glucose levels during an intraperitoneal glucose tolerance test
• 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

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

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory