Phenotypes associated with this allele

• Allele Symbol: Plpp3^tm1Stw
• Allele Name: targeted mutation 1, Colin L Stewart
• Allele ID: MGI:2674217
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Plpp3^tm1Stw/Plpp3^tm1Stw	either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J)	MGI:2674221
hm2	Plpp3^tm1Stw/Plpp3^tm1Stw	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:2674220

Genotype
MGI:2674221

hm1

• Allelic Composition: Plpp3^tm1Stw/Plpp3^tm1Stw
• Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:84753 )

• no live homozygous mutant embryos are recovered beyond E10.5

growth/size/body

embryonic growth retardation ( J:84753 )

• at ~E8.5-9.0 (6-somite stage), homozygous mutant embryos are developmentally delayed by 12-24 hrs relative to wild-type or heterozygous controls

• at E9.5-E10.5, mutant embryos that lack a chorio-allantoic placenta with an abnormal allantois are developmentally delayed

embryo

abnormal embryo turning ( J:84753 )

• at E9.5, homozygous mutant mice have not turned

embryonic growth retardation ( J:84753 )

• at ~E8.5-9.0 (6-somite stage), homozygous mutant embryos are developmentally delayed by 12-24 hrs relative to wild-type or heterozygous controls

• at E9.5-E10.5, mutant embryos that lack a chorio-allantoic placenta with an abnormal allantois are developmentally delayed

abnormal extraembryonic tissue morphology ( J:84753 )

• at E9.5, extra-embryonic membranes appear thin, pale, and anemic

abnormal vitelline vasculature morphology ( J:84753 )

• at E9.5-10.5, mutant embryos display abnormal vascularization of the yolk sac

• in contrast, embryonic vasculature appears overtly normal, as shown by the formation of dorsal aortas

absent vitelline blood vessels ( J:84753 )

• at E9.5-E10.5, no large blood vessels are formed in the yolk sac

disorganized yolk sac vascular plexus ( J:84753 )

• at E10.5, yolk sac endothelial cells fail to organize a vascular plexus

abnormal allantois morphology ( J:84753 )

• at E9.5-10.5, mutant embryos with 6 or more somite pairs exhibit an abnormal allantois which resembles a compact mass of tissue that is curled over the embryo and amnion and fails to connect with the chorionic plate

pale yolk sac ( J:84753 )

• at E9.5-10.5, yolk sacs appear pale and translucent

failure of chorioallantoic fusion ( J:84753 )

• at E9.5-10.5, the allantois fails to extend towards the chorion, even in the few developmentally advanced mutant embryos

abnormal vitelline vascular remodeling ( J:84753 )

• at E9.5-10.5, endothelial cells are present but fail to organize into a capillary network

cardiovascular system

abnormal vasculogenesis ( J:84753 )

• after 24-36 hrs in culture, allantoises isolated from 5-somite mutant embryos develop a compact mass of PECAM1-positive tissue in the center of the explant, with no evidence of capillary or cord formation, indicating abnormal allantoic vasculogenesis

abnormal vitelline vasculature morphology ( J:84753 )

• at E9.5-10.5, mutant embryos display abnormal vascularization of the yolk sac

• in contrast, embryonic vasculature appears overtly normal, as shown by the formation of dorsal aortas

absent vitelline blood vessels ( J:84753 )

• at E9.5-E10.5, no large blood vessels are formed in the yolk sac

disorganized yolk sac vascular plexus ( J:84753 )

• at E10.5, yolk sac endothelial cells fail to organize a vascular plexus

hemorrhage ( J:84753 )

• at E9.5-E10.5, mutant embryos are frequently hemorrhagic in the yolk sac cavity

homeostasis/metabolism

abnormal phospholipid level ( J:84753 )

• mutant MEFs display a significant increase of both extracellular lysophosphatidic acid (LPA) and intracellular phosphatidic acid (PA) levels relative to wild-type MEFs

• in addition, mutant MEFs show a significant decrease in the intracellular levels of diacylglycerol (DAG), concomitant with a reduction in the levels of activated protein kinase C (PKC)

Genotype
MGI:2674220

hm2

• Allelic Composition: Plpp3^tm1Stw/Plpp3^tm1Stw
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

embryo

abnormal gastrulation ( J:84753 )

• 30% of homozygous mutant embryos display a gastrulation defect

abnormal rostral-caudal axis patterning ( J:84753 )

rostral body truncation ( J:84753 )

• anterior truncation

rostral-caudal axis duplication ( J:84753 )

• at E7.5-E9.5, 31% of mutant embryos exhibit axis duplication or are highly abnormal

• Background Sensitivity: axis duplication is more prevalent on a mixed background involving 129S1/Sv and C57BL/6J, whereas abnormal vascularization and placental formation is fully penetrant on both a pure 129S1/Sv and mixed genetic background

• axis duplication is detectable as early as E6.5

short rostral-caudal axis ( J:84753 )

• shortened anterior-posterior axis

abnormal embryonic tissue morphology ( J:84753 )

• at E7.5-E9.5, a subset of mutant embryos exhibit anterior development outside the yolk sac membranes

increased axial mesoderm size ( J:84753 )

• some embryos display a broadening of the axial mesoderm domain

abnormal neural tube morphology ( J:84753 )

• mutant embryos with axial defects display partial to complete duplication of the neural tube

abnormal notochord morphology ( J:84753 )

• mutant embryos with axial defects display a duplicated notochord, with an extra row of somites formed ventrally to both notochords

• in some embryos, two short notochords are evident without an additional somite row forming between them

abnormal primitive streak morphology ( J:84753 )

• the primitive streak is often shortened at E7.5-E8.5

• some embryos display a broadening of the primitive streak domain

• at E7.0, some developmentally retarted mutant embryos display primitive streak duplication

abnormal primitive node morphology ( J:84753 )

• some embryos display a broadening of the primitive node domain

increased somite number ( J:84753 )

• a third somite row is often formed ventrally between the two notochords

embryonic-extraembryonic boundary constriction ( J:84753 )

• a constriction between the embryonic and extra-embryonic tissues is often observed

abnormal anterior visceral endoderm morphology ( J:84753 )

• at E7.5, ~30% of mutant embryos display abnormal AVE formation

nervous system

abnormal neural tube morphology ( J:84753 )

• mutant embryos with axial defects display partial to complete duplication of the neural tube