Phenotypes Associated with This Genotype

Genotype
MGI:3832577

• Allelic Composition: Gt(ROSA)26Sor^{tm1(Kcnj11*V59M)Fmas}/Gt(ROSA)26Sor⁺; Tg(Ins2-cre)23Herr/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

Reduction in islet insulin content in Gt(ROSA)26Sor^{tm1(Kcnj11*V59M)Fmas}/Gt(ROSA)26Sor⁺ Tg(Ins2-cre)23Herr/0 mice

endocrine/exocrine glands

abnormal pancreatic islet morphology ( J:144715 )

• the percentage of islet area occupied by beta cells is somewhat decreased

abnormal pancreatic alpha cell morphology ( J:144715 )

• alpha cells are not confined to the islet mantle

increased pancreatic alpha cell number ( J:144715 )

• relative increase in the number of alpha cells

abnormal pancreatic beta cell morphology ( J:144715 )

• some of the beta cells are irregularly shaped

decreased pancreatic beta cell number ( J:144715 )

• the percentage of beta cells is decreased

abnormal pancreatic beta cell physiology ( J:144715 )

• reduction in islet insulin content by 5 weeks of age but not at 5 days of age

• K(sub)ATP currents in beta cells are larger compared to control cells an inhibition of these currents by glucose is impaired

• glucose induced calcium responses of beta cells are impaired

decreased insulin secretion ( J:144715 )

• impairment in basal and both first and second-phase glucose induced insulin secretion

homeostasis/metabolism

decreased insulin secretion ( J:144715 )

• impairment in basal and both first and second-phase glucose induced insulin secretion

increased circulating glucose level ( J:144715 )

• elevated glucose levels develop by P3

• overt diabetes develops by 5 weeks of age

increased circulating glucagon level ( J:144715 )

• slightly elevated

decreased circulating insulin level ( J:144715 )

growth/size/body

decreased body weight ( J:144715 )

• seen in males by 4 to 6 weeks of age

renal/urinary system

polyuria ( J:144715 )

• produce copious amounts of urine after when a few weeks old

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
permanent neonatal diabetes mellitus		DOID:0060639	OMIM:606176	J:144715