Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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Gene Review:

Tulp3 - tubby-like protein 3

Mus musculus

Synonyms: 2310022L06Rik, AI316887, Tubby-like protein 3, Tubby-related protein 3

Ikeda, A. et al., Ikeda, S. et al., Carroll, K. et al.

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Disease relevance of Tulp3

Neural tube defects and neuroepithelial cell death in Tulp3 knockout mice [1].

High impact information on Tulp3

Ablation of Tub, Tulp1 or Tulp3 causes disease phenotypes that are indicative of their importance in nervous-system function and development [2].
In addition, the number of betaIII-tubulin positive cells is significantly decreased in the hindbrain of Tulp3(-/-) embryos [1].
To determine the in vivo function of Tulp3, we have generated a germline mutation in the mouse Tulp3 gene by homologous recombination [1].
Our results demonstrate that the Tulp3 gene is essential for embryonic development in mice [1].
In contrast, Tulp1 expression was observed only in photoreceptor cells and Tulp3 mRNA was expressed at a moderate level only in the inner nuclear layer (INL) and GCL [3].

Biological context of Tulp3

Interestingly, some Tulp3 heterozygotes also manifest embryonic lethality with neuroepithelial cell death [1].

References

Neural tube defects and neuroepithelial cell death in Tulp3 knockout mice. Ikeda, A., Ikeda, S., Gridley, T., Nishina, P.M., Naggert, J.K. Hum. Mol. Genet. (2001) [Pubmed]
Tubby proteins: the plot thickens. Carroll, K., Gomez, C., Shapiro, L. Nat. Rev. Mol. Cell Biol. (2004) [Pubmed]
Cell-specific expression of tubby gene family members (tub, Tulp1,2, and 3) in the retina. Ikeda, S., He, W., Ikeda, A., Naggert, J.K., North, M.A., Nishina, P.M. Invest. Ophthalmol. Vis. Sci. (1999) [Pubmed]

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