Phenotypes Associated with This Genotype

Genotype
MGI:2676973

• Allelic Composition: Tbx6^tm1Pa/Tbx6^tm1Pa
• Genetic Background: 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:80954 )

• by E12.5 all mutant embryos were dead, presumably due to hemorrhaging of embryonic blood vessels

cardiovascular system

abnormal vascular development ( J:80954 )

• multiple hematomas in the spinal cord and tail buds at E8.5

• extraembryonic vasculature appeared normal

abnormal intersomitic artery morphology ( J:80954 )

• lack of segmental arteries

hematoma ( J:80954 )

• multiple hematomas in the spinal cord and tail buds at E8.5

embryo

abnormal paraxial mesoderm morphology ( J:80954 )

• severe defects in the differentiation of paraxial mesoderm

kinked neural tube ( J:80954 )

• seen at E8.5

impaired somite development ( J:80954 )

• 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

enlarged tail bud ( J:80954 )

• 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

nervous system

kinked neural tube ( J:80954 )

• seen at E8.5

limbs/digits/tail

enlarged tail bud ( J:80954 )

• 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