title: Axon fasciculation defects and retinal dysplasias in mice lacking the immunoglobulin superfamily adhesion molecule BEN/ALCAM/SC1.
abstract: The immunoglobulin superfamily adhesion molecule BEN (other names include ALCAM, SC1, DM-GRASP, neurolin, and CD166) has been implicated in the control of numerous developmental and pathological processes, including the guidance of retinal and motor axons to their targets. To test hypotheses about BEN function, we disrupted its gene via homologous recombination and analyzed the resulting mutant mice. Mice lacking BEN are viable and fertile, and display no external morphological defects. Despite grossly normal trajectories, both motor and retinal ganglion cell axons fasciculated poorly and were occasionally misdirected. In addition, BEN mutant retinae exhibited evaginated or invaginated regions with photoreceptor ectopias that resembled the "retinal folds" observed in some human retinopathies. Together, these results demonstrate that BEN promotes fasciculation of multiple axonal populations and uncover an unexpected function for BEN in retinal histogenesis.
authors.affiliation: Department of Anatomy and Neurobiology, Washington University School of Medicine, St. Louis, MO 63110, USA. joshua-weiner@uiowa.edu
authors.forename: Joshua A
authors.initials: JA
authors.lastname: Weiner
authors.forename: Sonya J
authors.initials: SJ
authors.lastname: Koo
authors.forename: Stéphane
authors.initials: S
authors.lastname: Nicolas
authors.forename: Sandrine
authors.initials: S
authors.lastname: Fraboulet
authors.forename: Samuel L
authors.initials: SL
authors.lastname: Pfaff
authors.forename: Olivier
authors.initials: O
authors.lastname: Pourquié
authors.forename: Joshua R
authors.initials: JR
authors.lastname: Sanes
mesh_terms: D020410:Activated-Leukocyte Cell Adhesion Molecule / Q000235:genetics*; D000818:Animals; D002448:Cell Adhesion / Q000235:genetics; D002450:Cell Communication / Q000235:genetics; D002454:Cell Differentiation / Q000235:genetics; D002478:Cells, Cultured; D002828:Choristoma / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D020439:Growth Cones / Q000378:metabolism* / Q000473:pathology; D051379:Mice; D018345:Mice, Knockout; D009046:Motor Neurons / Q000378:metabolism / Q000473:pathology; D009900:Optic Nerve / Q000002:abnormalities* / Q000378:metabolism / Q000473:pathology; D015792:Retinal Dysplasia / Q000235:genetics* / Q000378:metabolism* / Q000503:physiopathology; D012165:Retinal Ganglion Cells / Q000378:metabolism* / Q000473:pathology
chemical_list: D020410:Activated-Leukocyte Cell Adhesion Molecule