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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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3578747/
https://www.ncbi.nlm.nih.gov/pubmed/23437001
http://dx.doi.org/10.1371/journal.pgen.1003206