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

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Gene Review: 

Pomt1  -  protein-O-mannosyltransferase 1

Mus musculus

Synonyms: AI505244, Dolichyl-phosphate-mannose--protein mannosyltransferase 1, Protein O-mannosyl-transferase 1
 
 
 
 
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High impact information on Pomt1

  • During embryogenesis, the murine Pomt1 gene is prominently expressed in the neural tube, the developing eye, and the mesenchyme [1].
  • An analysis of the mutant phenotype revealed that homozygous Pomt1(-/-) mice suffer developmental arrest around embryonic day (E) 7.5 and die between E7.5 and E9 [1].
  • We have inactivated a Pomt1 allele by gene targeting in embryonic stem cells and produced chimeras transmitting the defect allele to offspring [1].
  • Although heterozygous mice were viable and fertile, the total absence of Pomt1(-/-) pups in the progeny of heterozygous intercrosses indicated that this genotype is embryonic lethal [1].
  • 5. The Pomt1(-/-) embryos present defects in the formation of Reichert's membrane, the first basement membrane to form in the embryo [1].

References

  1. Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality. Willer, T., Prados, B., Falcón-Pérez, J.M., Renner-Müller, I., Przemeck, G.K., Lommel, M., Coloma, A., Valero, M.C., de Angelis, M.H., Tanner, W., Wolf, E., Strahl, S., Cruces, J. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
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