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.

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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Bibliographic Details
Main Authors: Francesca Lugani, Ripla Arora, Natalia Papeta, Ami Patel, Zongyu Zheng, Roel Sterken, Ruth A Singer, Gianluca Caridi, Cathy Mendelsohn, Lori Sussel, Virginia E Papaioannou, Ali G Gharavi
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-01-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC3578747?pdf=render

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http://europepmc.org/articles/PMC3578747?pdf=render

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