Phenotypes Associated with This Genotype

Genotype
MGI:3531405

• Allelic Composition: Phox2a/Inppl1^tm1Ssch/Phox2a/Inppl1^tm1Ssch
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

mortality/aging

postnatal lethality, complete penetrance ( J:96443 )

• homozygous mice die within 3 days after birth

• homozygous mice were transiently rescued for up to 96 h by repeated injection of D-glucose during the first 24 h postpartum or injection of neutralizing antibody to insulin within the first hour after birth

behavior/neurological

lethargy ( J:96443 )

• homozygotes become lethargic after birth

• injection of D-glucose during the first 24 h postpartum increased activity

growth/size/body

postnatal growth retardation ( J:96443 )

• all homozygotes failed to gain weight

homeostasis/metabolism

hypoglycemia ( J:96443 )

• blood glucose levels are normal at 2-8 h after birth; however, hypoglycemia develops 10-15 h after birth

decreased circulating insulin level ( J:96443 )

cyanosis ( J:96443 )

abnormal gluconeogenesis ( J:96443 )

• homozygous mice show decreased expression of several key gluconeogenic enzymes, contributing to hypoglycemia

increased insulin sensitivity ( J:96443 )

• injection with an anti-insulin antibody within the first hour after birth improved survival and increased glucose levels indicating increased insulin sensitivity

respiratory system

respiratory distress ( J:96443 )

• homozygotes presented signs of respiratory distress; however, the cause of respiratory distress was not due to a lack of surfactant or an abnormal differentiation of surfactant-producing cell