Article
An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression.
The Journal of clinical investigation - 1 Apr 2005
Niedermaier Michael, Schwabe Georg C, Fees Stephan, Helmrich Anne, Brieske Norbert, Seemann Petra, Hecht Jochen, Seitz Volkhard, Stricker Sigmar, Leschik Gundula, Schrock Evelin, Selby Paul B, Mundlos Stefan
Abstract excerpt
Short digits (Dsh) is a radiation-induced mouse mutant. Homozygous mice are characterized by multiple defects strongly resembling those resulting from Sonic hedgehog (Shh) inactivation. Heterozygous mice show a limb reduction phenotype with fusion and shortening of the proximal and middle phalanges in all digits, similar to human brachydactyly type A1, a condition caused by mutations in Indian hedgehog (IHH). We...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.