The Tbx6 (T-box 6) gene belongs to a family of transcription factors involved in development and is crucial to specification of the posterior paraxial mesoderm. Tbx6 alleles are associated with human spondylocostal dysostosis and scoliosis. These knock-out mice contain a neomycin cassette that replaces exons 1, 2 and part of 3 representing the initiating methionine and a portion of the T-box, a DNA binding domain. Homozygous embryos develop abnormalities beginning at E8.5; these include: loss of trunk somites, enlarged tail buds, kinked neural tubes, abnormal heart looping, abnormal nodal cilia morphology and motility, randomized embryo turning and multiple vascular abnormalities. Rather than differentiating into somites, posterior paraxial tissue develops into neural tissue forming neural-tube-like structures flanking the axial neural tube. The paraxial tubes exhibit dorsal/ventral patterning and have differentiated motor neurons. Homozygous embryos die by E12.5 due to hemorrhaging. Heterozygotes are viable and fertile with minor skeletal abnormalities. These mice may be useful for studying skeletal development and neural determination.

This knock-out allele of Tbx6 (T-box 6) deletes exons 1, 2 and part 3, resulting in embryonic lethality by E12.5. Homozygous embryos develop randomized left/right axis determination and altered specification of the posterior paraxial tissue, which differentiates into neural tissue. These mice may be useful for studying skeletal development and neural determination.

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