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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Paxip1tm1Gdr
targeted mutation 1, Gregory R Dressler
MGI:2653321
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Paxip1tm1Gdr/Paxip1tm1Gdr involves: 129S1/Sv * 129X1/SvJ MGI:3814336
hm2
Paxip1tm1Gdr/Paxip1tm1Gdr involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:2653328


Genotype
MGI:3814336
hm1
Allelic
Composition
Paxip1tm1Gdr/Paxip1tm1Gdr
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Paxip1tm1Gdr mutation (0 available); any Paxip1 mutation (47 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• embryonic lethality occurs before E9.5

growth/size/body
• embryos are disorganized and degenerating at E9.5

embryo
• embryos are disorganized and degenerating at E9.5




Genotype
MGI:2653328
hm2
Allelic
Composition
Paxip1tm1Gdr/Paxip1tm1Gdr
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Paxip1tm1Gdr mutation (0 available); any Paxip1 mutation (47 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygotes are embryonic lethal by E9.5

growth/size/body
• at E9.5, mutant embryos are significantly smaller than wild-type embryos

embryo
• at E9.5, mutant embryos show little vascularization of the yolk sac
• at E7.5, TUNEL staining revealed significant cell death within the embryonic ectodermal layer, but not within the extraembryonic and ectoplacental tissues
• remarkably, many mutant nuclei stain positive in the TUNEL assay even before nuclear condensation occurs, whereas wild-type TUNEL-positive nuclei are almost always pyknotic
• at E8.5, apoptosis is more widespread than at E7.5, and is particularly high in the embryo proper
• blastocyst outgrowths from E3.5 mutant embryos exhibit inhibition of inner cell mass proliferation upon explant culture
• at E9.5, mutant embryos exhibit a poorly defined body axis
• at E9.5, mutant embryos appear to be developmentally arrested and severely disorganized relative to wild-type embryos
• at E9.5, mutant embryos are significantly smaller than wild-type embryos
• at E7.5, the egg cylinder is about half as long as that of a wild-type embryos
• in contrast, the ectoplacental cone is well developed
• at E9.5, only occasional somites are present, often unilaterally
• at E9.5, mutant embryos resemble disorganized E8.5 embryos
• however, the head folds and neural tube are present in most cases
• at E9.5, the allantois has not yet reached the placenta
• at E7.5, mutant embryos lack a clearly defined amnion

cardiovascular system
• at E9.5, mutant embryos show little vascularization of the yolk sac
• at E9.5, mutant embryos display no signs of heart development

cellular
• the number of mitotic cells with condensed chromatin is reduced at E7.5 and severely limited by E8.5
• at E7.5, centrosomes are undetected, the microtubules are poorly organized, and chromatin condensation appears abnormal with suppressed levels of phospho-histone H3 and little evidence of segregation
• by E8.5, only a few cells are shown to progress through mitosis
• mutant trophoblast cells exhibit increased sensitivity to 2 Gy of ionizing radiation, with a 50% reduction in the number of viable trophoblast cells after 7 days in culture
• at E7.5, TUNEL staining revealed significant cell death within the embryonic ectodermal layer, but not within the extraembryonic and ectoplacental tissues
• remarkably, many mutant nuclei stain positive in the TUNEL assay even before nuclear condensation occurs, whereas wild-type TUNEL-positive nuclei are almost always pyknotic
• at E8.5, apoptosis is more widespread than at E7.5, and is particularly high in the embryo proper
• at E8.5, BrdU-positive cells are found only in regions that show less TUNEL staining or in the amniotic membrane; in contrast, BrdU-positive cells are abundant in wild-type embryos, representing ~52% of the total nuclei
• neither embryonic fibroblast nor embryonic stem cells isolated from mutant embryos proliferate in culture, suggesting a severe defect in cell proliferation
• blastocyst outgrowths from E3.5 mutant embryos exhibit inhibition of inner cell mass proliferation upon explant culture
• DNA damage appears to occur prior to nuclear condensation at E7.5, suggesting a defect in DNA repair
• although DNA replication is relatively normal at E7.5 when cell death is first detected, no DNA replication occurs in most of the embryo proper at E8.5, as cell death becomes widespread

homeostasis/metabolism
• DNA damage appears to occur prior to nuclear condensation at E7.5, suggesting a defect in DNA repair
• although DNA replication is relatively normal at E7.5 when cell death is first detected, no DNA replication occurs in most of the embryo proper at E8.5, as cell death becomes widespread





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory