homeostasis/metabolism
• islets show impaired glucose-induced insulin secretion especially at higher concentrations, but this is not due to impairment of ATP
|
• mutants on a high-fat diet have lower glucose-stimulated plasma insulin concentrations
|
• on a high fat diet, mutants older than 6 months of age display impaired glucose tolerance; younger mutants do not show this
|
• on a normal diet, homozygotes are not insulin resistant
|
• glucose-induced Ca2+ release in islets is markedly decreased in mutants
|
• plasma cholesterol levels are identical to wild-type when fed a normal chow diet; when fed a high fat diet for 2 months, plasma cholesterol levels are significantly increased (~200 mg/dl vs ~170 mg/dl)
|
• levels are increased in mutants fed a high fat diet
|
endocrine/exocrine glands
• islets show impaired glucose-induced insulin secretion especially at higher concentrations, but this is not due to impairment of ATP
|
limbs/digits/tail
• pathological fractures of lower limbs are seen in some mutants
|
• in females older than 6 months, femur bone is thin and fragile
|
• thickness of tibias in female mutants is reduced to 60-70% of controls
|
craniofacial
• in females older than 6 months, parietal bone is thin and fragile
• thickness of parietal portion of calvaria is reduced to 50-60% of controls
|
liver/biliary system
• hepatic uptake and clearance of chylomicron remnants is markedly reduced in mutants to ~16% of wild-type levels
|
skeleton
• in females older than 6 months, parietal bone is thin and fragile
• thickness of parietal portion of calvaria is reduced to 50-60% of controls
|
• in females older than 6 months, femur bone is thin and fragile
|
• thickness of tibias in female mutants is reduced to 60-70% of controls
|