Analysis Tools|
Allele Symbol Allele Name Allele ID |
Tbx6tm1Pa targeted mutation 1, Virginia Papaioannou MGI:2447721 |
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| Summary |
5 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• abnormal patterning at E8.5
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• ectopic neural tube development at E9.5
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• ectopic neural tube development at E9.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• by E12.5 all mutant embryos were dead, presumably due to hemorrhaging of embryonic blood vessels
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• multiple hematomas in the spinal cord and tail buds at E8.5
• extraembryonic vasculature appeared normal
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• lack of segmental arteries
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• severe defects in the differentiation of paraxial mesoderm
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• seen at E8.5
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• absence of trunk somites at E8.5
• irregular somites form in the neck region
• posterior paraxial tissue does not form somites, but forms neural tube like structures that flank the axial neural tube
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• seen at E8.5
• tail buds examined at E9.5 and E10.5 contained undifferentiated mesenchymal cells and multiple rosettes of epithelializing tissue lateral to the neural tube
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• seen at E8.5
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• seen at E8.5
• tail buds examined at E9.5 and E10.5 contained undifferentiated mesenchymal cells and multiple rosettes of epithelializing tissue lateral to the neural tube
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• in adult females, the total brain area is increased by 10% relative to wild-type females
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• in adult males, the width of the retrosplenial granular cortex is increased by 11% relative to wild-type males
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• in adult females, the area of the hippocampal fimbria is increased by 13% relative to wild-type females
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• in adult males, the height of the secondary somatosensory cortex is increased by 8% relative to wild-type males
• in adult females, the height of the secondary somatosensory cortex is increased by 12% relative to wild-type females
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• adult males show thicker cerebral cortices than wild-type males
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• in adult males, the area of the piriform cortex is increased by 21% relative to wild-type males
• in adult females, the area of the piriform cortex is increased by 16% relative to wild-type females
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• some cilia are shorter and thicker
• most cilia have terminal bulges or balloon like structures
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• direction of turning is completely reversed in 18% (7 of 38) of embryos and partially reversed in an additional 4 embryos
• embryos with reversal of turning direction do not always also have reversal of the direction of heart looping
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• at E9.5 - E10.5, about 40% of embryos show either completely reversed or ventral rather than horizontal looping
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• some cilia are shorter and thicker
• most cilia have terminal bulges or balloon like structures
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• absence of genes associated with neural tube development in the paraxial compartment concomitant with absence of tubular structures at E9.5
• expression analysis indicates absence of markers for the paraxial mesoderm, intermediate mesoderm and endoderm
• however, unlike mice homozygous for the Tbx6 mutation alone, no ectopic expression of Sox2 is seen in the neural tube
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• absence of genes associated with neural tube development in the paraxial compartment concomitant with absence of tubular structures at E9.5
• expression analysis indicates absence of markers for the paraxial mesoderm, intermediate mesoderm and endoderm
• however, unlike mice homozygous for the Tbx6 mutation alone, no ectopic expression of Sox2 is seen in the neural tube
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 09/30/2025 MGI 6.24 |
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