Next-Generation Sequencing Identifies the Danforth's Short Tail Mouse Mutation as a Retrotransposon Insertion Affecting Ptf1a Expression

The semidominant Danforth's short tail (Sd) mutation arose spontaneously in the 1920s. The homozygous Sd phenotype includes severe malformations of the axial skeleton with an absent tail, kidney agenesis, anal atresia, and persistent cloaca. The Sd mutant phenotype mirrors features seen in huma...

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Detalles Bibliográficos
Autores principales: Vlangos, Christopher N., Siuniak, Amanda N., Robinson, Dan, Chinnaiyan, Arul M., Lyons, Robert H., Cavalcoli, James D., Keegan, Catherine E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3578742/
https://www.ncbi.nlm.nih.gov/pubmed/23437000
http://dx.doi.org/10.1371/journal.pgen.1003205

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3578742/
https://www.ncbi.nlm.nih.gov/pubmed/23437000
http://dx.doi.org/10.1371/journal.pgen.1003205

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