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Publication : Neural tube defects and neuroepithelial cell death in Tulp3 knockout mice.

First Author  Ikeda A Year  2001
Journal  Hum Mol Genet Volume  10
Issue  12 Pages  1325-34
PubMed ID  11406614 Mgi Jnum  J:70060
Mgi Id  MGI:2136130 Doi  10.1093/hmg/10.12.1325
Citation  Ikeda A, et al. (2001) Neural tube defects and neuroepithelial cell death in Tulp3 knockout mice. Hum Mol Genet 10(12):1325-34
abstractText  The tubby-like protein 3 (Tulp3) gene has been identified as a member of a small novel gene family which is primarily neuronally expressed. Mutations in two of the family members, tub and tulp1, have been shown to cause neurosensory disorders. To determine the in vivo function of Tulp3, we have generated a germline mutation in the mouse Tulp3 gene by homologous recombination. Embryos homozygous for the Tulp3 mutant allele exhibit failure of neural tube closure, and die by embryonic day 14.5. Failure of cranial neural tube closure coincided with increased neuroepithelial apoptosis specifically in the hindbrain and the caudal neural tube. In addition, the number of betaIII-tubulin positive cells is significantly decreased in the hindbrain of Tulp3(-/-) embryos. These results suggest that disruption of the Tulp3 gene affects the development of a neuronal cell population. Interestingly, some Tulp3 heterozygotes also manifest embryonic lethality with neuroepithelial cell death. Our results demonstrate that the Tulp3 gene is essential for embryonic development in mice.
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