@article{76a9b30261574a6bb302d01c7678bf26,
title = "The mouse short ear skeletal morphogenesis locus is associated with defects in a bone morphogenetic member of the TGFβ superfamily",
abstract = "The mouse short ear gene is required for normal growth and patterning of skeletal structures, and for repair of bone fractures in adults. We have carried out an extensive chromosome walk in the chromosome region that surrounds this locus. Here we show that the short ear region contains the gene for a TGFβ-related protein called bone morphogenetic protein 5 (Bmp-5). This gene is deleted or rearranged in several independent mutations at the short ear locus. Mice homozygous for large deletions of the Bmp-5 coding region are viable and fertile. Mutations at the short ear locus provide an important new tool for defining the normal functions of BMPs in mammals. The specific skeletal defects seen in short-eared animals, which occur against a background of otherwise normal skeletal structures, suggest that particular aspects of skeletal morphology may be determined by individual members of a family of signaling factors that can induce the formation of cartilage and bone in vivo.",
author = "Kingsley, {David M.} and Bland, {Adrienne E.} and Grubber, {Janet M.} and Marker, {Paul C.} and Russell, {Liane B.} and Copeland, {Neal G.} and Jenkins, {Nancy A.}",
note = "Funding Information: We would like to thank Maylene Wagener and Deborah Swing for excellent animal care; P. R. Hunsicker, E. L. Phipps, and J. W. Bang-ham for the derivation, genetic testing, and propagation of the Oak Ridge short ear mutations; Shirley Tilghman for providing the mouse YAC clones, Debra Gilbert for assistance with the backcross mapping, Karen Avraham for useful discussions, and Margaret and Earl Green for their detailed genetic and developmental studies of the original short ear mutation. This research was supported in part by Alfred and Katherine Heller and the Clarence E. Heller Charitable Foundation (D. M. K.), the National Cancer Institute under contract NOl-CO-74101 with ABL (J. M. G., N. G. C., N. A. J.), and by the Office of Health and Environmental Research, United States Department of Energy, under contract DE-AC05-840R21400 with Martin Marietta Energy Systems, Inc. (L. B. R.). P. M. is a Howard Hughes Medical Institute Predoctoral Fellow. D. M. K. is a Lucille P. Markey Scholar, and this work was supported in part by a grant from the Lucille P. Markey Charitable Trust.",
year = "1992",
month = oct,
day = "30",
doi = "10.1016/0092-8674(92)90510-J",
language = "English (US)",
volume = "71",
pages = "399--410",
journal = "Cell",
issn = "0092-8674",
publisher = "Elsevier B.V.",
number = "3",
}