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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Detalhes bibliográficos
Main Authors: Vlangos, Christopher N., Siuniak, Amanda N., Robinson, Dan, Chinnaiyan, Arul M., Lyons, Robert H., Cavalcoli, James D., Keegan, Catherine E.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2013
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3578742/
https://ncbi.nlm.nih.gov/pubmed/23437000
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1003205
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