Phenotypes associated with this allele

• Allele Symbol: Pik3ca^tm1Nbm
• Allele Name: targeted mutation 1, Robert L Nussbaum
• Allele ID: MGI:2180704
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pik3ca^tm1Nbm/Pik3ca^tm1Nbm	involves: 129S6/SvEvTac	MGI:2651935
hm2	Pik3ca^tm1Nbm/Pik3ca^tm1Nbm	involves: 129S6/SvEvTac * CD-1	MGI:3714030
cx3	Pik3ca^tm1Nbm/Pik3ca^+ Pik3cb^tm1Nbm/Pik3cb^+	involves: 129S6/SvEvTac	MGI:2651931

Genotype
MGI:2651935

hm1

• Allelic Composition: Pik3ca^tm1Nbm/Pik3ca^tm1Nbm
• Genetic Background: involves: 129S6/SvEvTac

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

Hemorrhage is observed in Pik3ca^tm1Nbm/Pik3ca^tm1Nbm embryos

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:54237 )

• death between E9.5 and E10.5

cardiovascular system

hemorrhage ( J:54237 )

• hemorrhages apparent at the forehead, snout, and other parts of the body

cellular

decreased cell proliferation ( J:54237 )

• impaired proliferation of cells with no increase in apoptosis

embryo

decreased embryo size ( J:54237 )

• smaller at E9.5

abnormal somite development ( J:54237 )

• embryos at E9.5 have fewer somites (22 vs. 25 in wild-type)

growth/size/body

decreased embryo size ( J:54237 )

• smaller at E9.5

Genotype
MGI:3714030

hm2

• Allelic Composition: Pik3ca^tm1Nbm/Pik3ca^tm1Nbm
• Genetic Background: involves: 129S6/SvEvTac * CD-1

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:98972 )

• Background Sensitivity: mutants on a CD-1 background survive a few hours longer than on a 129X1 background and are still viable at E9.5

cardiovascular system

abnormal brain vasculature morphology ( J:98972 )

• dilated vessels in the head

abnormal anterior cardinal vein morphology ( J:98972 )

• exhibit impaired/incomplete development of anterior cardinal veins

abnormal vitelline vasculature morphology ( J:98972 )

• lack the hierarchical order of large and small branches in the yolk sac

blood vessel congestion ( J:98972 )

• blood congestion is apparent in the head

abnormal endocardium morphology ( J:98972 )

• reduced branching morphogenesis in the endocardium; endocardial lumens are much simpler

embryo

abnormal vitelline vasculature morphology ( J:98972 )

• lack the hierarchical order of large and small branches in the yolk sac

pale yolk sac ( J:98972 )

nervous system

abnormal brain vasculature morphology ( J:98972 )

• dilated vessels in the head

Genotype
MGI:2651931

cx3

• Allelic Composition: Pik3ca^tm1Nbm/Pik3ca⁺; Pik3cb^tm1Nbm/Pik3cb⁺
• Genetic Background: involves: 129S6/SvEvTac

homeostasis/metabolism

increased circulating insulin level ( J:96761 )

• mild hyperinsulinemia in the fasted state at 6 months of age

impaired glucose tolerance ( J:96761 )

• mild glucose intolerance in glucose tolerance test at 6 months of age but not at early ages

• however, no differences seen in glucose clearance during an insulin tolerance test