Article
Next-generation sequencing identifies the Danforth's short tail mouse mutation as a retrotransposon insertion affecting Ptf1a expression.
PLoS genetics - 1 Jan 2013
Vlangos Christopher N, Siuniak Amanda N, Robinson Dan, Chinnaiyan Arul M, Lyons Robert H, Cavalcoli James D, Keegan Catherine E
Abstract excerpt
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 human caudal malformation syndromes including urorectal septum malformation, caudal regression, VACTERL association, and...
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