TY - JOUR AU - Leegwater, Peter A. AU - Vos-Loohuis, Manon AU - Ducro, Bart J. AU - Boegheim, Iris J. AU - van Steenbeek, Frank G. AU - Nijman, Isaac J. AU - Monroe, Glen R. AU - Bastiaansen, John W. M. AU - Dibbits, Bert W. AU - van de Goor, Leanne H. AU - Hellinga, Ids AU - Back, Willem AU - Schurink, Anouk PY - 2016 DA - 2016/10/28 TI - Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7 JO - BMC Genomics SP - 839 VL - 17 IS - 1 AB - Inbreeding and population bottlenecks in the ancestry of Friesian horses has led to health issues such as dwarfism. The limbs of dwarfs are short and the ribs are protruding inwards at the costochondral junction, while the head and back appear normal. A striking feature of the condition is the flexor tendon laxity that leads to hyperextension of the fetlock joints. The growth plates of dwarfs display disorganized and thickened chondrocyte columns. The aim of this study was to identify the gene defect that causes the recessively inherited trait in Friesian horses to understand the disease process at the molecular level. SN - 1471-2164 UR - https://doi.org/10.1186/s12864-016-3186-0 DO - 10.1186/s12864-016-3186-0 ID - Leegwater2016 ER -