Phenotypes associated with this allele

• Allele Symbol: Phox2a/Inppl1^tm1Ssch
• Allele Name: targeted mutation 1, Stephane Schurmans
• Allele ID: MGI:3531322
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Phox2a/Inppl1^tm1Ssch/Phox2a/Inppl1^tm1Ssch	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3531405
ht2	Phox2a/Inppl1^tm1Ssch/Inppl1^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3531410

Genotype
MGI:3531405

hm1

• 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

Genotype
MGI:3531410

ht2

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

growth/size/body

decreased body weight ( J:96443 )

• injection of insulin caused more profound hypoglycemia in heterozygotes than in wild-type mice

homeostasis/metabolism

improved glucose tolerance ( J:96443 )

• injection of D-glucose resulted in a more rapid glucose clearance in heterozygous compared to wild-type

abnormal glycogen homeostasis ( J:96443 )

• in response to insulin stimulation GLUT4 glucose transporter and glycogen synthesis are increased more profoundly in skeletal muscle of heterozygotes compared to wild-type mice