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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Bibliographic Details
Main Authors: Christopher N Vlangos, Amanda N Siuniak, Dan Robinson, Arul M Chinnaiyan, Robert H Lyons, James D Cavalcoli, Catherine E Keegan
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-01-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC3578742?pdf=render