Phenotypes Associated with This Genotype

Genotype
MGI:2174959

• Allelic Composition: Insr^tm1Dac/Insr^tm1Dac
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

mortality/aging

postnatal lethality, complete penetrance ( J:33408 )

• mice die within 72 hours of birth

homeostasis/metabolism

abnormal glucose homeostasis ( J:79560 )

• about 10% with diabetes

hyperglycemia ( J:33408 )

• plasma glucose levels rose sharply after birth; measured between 24-37 mmol/l

increased circulating insulin level ( J:33408 )

• plasma insulin levels rose sharply after birth to levels approximately 7 times that of controls

ketoaciduria ( J:33408 )

• homozygous mice developed diabetic ketoacidosis, with ketone bodies in urine; urinary acetoacetate measured between 8-16 mmol/l

liver/biliary system

hepatic steatosis ( J:33408 )

• steatosis; fatty degeneration of liver

renal/urinary system

ketoaciduria ( J:33408 )

• homozygous mice developed diabetic ketoacidosis, with ketone bodies in urine; urinary acetoacetate measured between 8-16 mmol/l

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	Donohue syndrome	DOID:0050470	OMIM:246200	J:33408