Phenotypes Associated with This Genotype

Genotype
MGI:2174961

• Allelic Composition: Insr^tm1Jja/Insr^tm1Jja
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

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

mortality/aging

postnatal lethality ( J:80773 )

postnatal lethality, complete penetrance ( J:32538 )

• mice die within one week of birth

growth/size/body

decreased body weight ( J:32538 )

• homozygous animals weighed 30 - 40% less than controls

enlarged liver ( J:32538 )

homeostasis/metabolism

hyperglycemia ( J:32538 )

increased circulating insulin level ( J:32538 )

increased circulating free fatty acids level ( J:32538 )

• plasma fatty acid concentrations visibly elevated

increased circulating triglyceride level ( J:32538 )

• plasma triglyceride levels were 6 fold higher than controls

decreased liver glycogen level ( J:32538 )

• liver glycogen content could decrease 5 fold compared to controls

increased urine glucose level ( J:32538 )

ketoaciduria ( J:80773 , J:32538 )

• homozygous mice developed diabetic ketoacidosis, with glucose and ketone bodies in urine (J:32538)

liver/biliary system

enlarged liver ( J:32538 )

decreased liver glycogen level ( J:32538 )

• liver glycogen content could decrease 5 fold compared to controls

hepatic steatosis ( J:80773 , J:32538 )

• fatty infiltration of the liver was noted (J:32538)

muscle

skeletal muscle hypotrophy ( J:32538 )

• marked hypotrophy, apparent in days following birth

renal/urinary system

increased urine glucose level ( J:32538 )

ketoaciduria ( J:80773 , J:32538 )

• homozygous mice developed diabetic ketoacidosis, with glucose and ketone bodies in urine (J:32538)

adipose tissue

decreased total body fat amount ( J:80773 )

• reduction in adipose tissue

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	Donohue syndrome	DOID:0050470	OMIM:246200	J:32538