A Retrotransposon Insertion in the 5′ Regulatory Domain of Ptf1a Results in Ectopic Gene Expression and Multiple Congenital Defects in Danforth's Short Tail Mouse

Danforth's short tail mutant (Sd) mouse, first described in 1930, is a classic spontaneous mutant exhibiting defects of the axial skeleton, hindgut, and urogenital system. We used meiotic mapping in 1,497 segregants to localize the mutation to a 42.8-kb intergenic segment on chromosome 2. Reseq...

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Main Authors: Lugani, Francesca, Arora, Ripla, Papeta, Natalia, Patel, Ami, Zheng, Zongyu, Sterken, Roel, Singer, Ruth A., Caridi, Gianluca, Mendelsohn, Cathy, Sussel, Lori, Papaioannou, Virginia E., Gharavi, Ali G.
Formato: Artigo
Idioma:Inglês
Publicado: Public Library of Science 2013
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Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3578747/
https://ncbi.nlm.nih.gov/pubmed/23437001
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1003206
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