Phenotypes Associated with This Genotype

Genotype
MGI:5796777

• Allelic Composition: Tg(Ins2-GLUD1*H454Y)2Csta/0
• Genetic Background: involves: C57BL/6 * SJL

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

decreased survivor rate ( J:113458 )

• 33% survival at 1 month of age compared to 49% in controls

• survival rates decline to 26% at 4 months of age

homeostasis/metabolism

abnormal insulin secretion ( J:113458 )

• islets are more sensitive to glutamine-stimulated insulin secretion than controls or than transgenic line 1 mice

hypoglycemia ( J:113458 )

• blood glucose concentrations are lower by 4 weeks of age and mice are more severely hypoglycemic than line 1 mice

endocrine/exocrine glands

abnormal pancreatic beta cell physiology ( J:113458 )

• 10 mM glutamine alone causes an increase of intracellular calcium in mutant islets but not control islets

abnormal insulin secretion ( J:113458 )

• islets are more sensitive to glutamine-stimulated insulin secretion than controls or than transgenic line 1 mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hyperinsulinemic hypoglycemia		DOID:13317	OMIM:PS256450	J:113458