All Phenotypes Phox2a/Inppl1<tm1Ssch> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Phox2a/Inppl1^tm1Ssch/Phox2a/Inppl1^tm1Ssch	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3531404
ht2	Phox2a/Inppl1^tm1Ssch/Phox2a⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3531409

♀	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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
type 2 diabetes mellitus		DOID:9352	OMIM:125853 OMIM:601283 OMIM:601407 OMIM:603694 OMIM:608036	J:96443

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Phox2a/Inppl1^tm1Ssch mutation (0 available); any Phox2a mutation (10 available)

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

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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
type 2 diabetes mellitus		DOID:9352	OMIM:125853 OMIM:601283 OMIM:601407 OMIM:603694 OMIM:608036	J:96443

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