Loss of function of Colgalt1 disrupts collagen post-translational modification and causes musculoskeletal defects

• Main Authors: Krista A. Geister (Author), Alberto Jose Lopez-Jimenez (Author), Scott Houghtaling (Author), Tzu-Hua Ho (Author), Roberto Vanacore (Author), David R. Beier (Author)
• Format: Book
• Published: The Company of Biologists, 2019-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

In a screen for organogenesis defects in N-ethyl-N-nitrosourea (ENU)-induced mutant mice, we discovered a line carrying a mutation in Colgalt1 [collagen beta(1-O)galactosyltransferase type 1], which is required for proper galactosylation of hydroxylysine residues in a number of collagens. Colgalt1 m...