TY - JOUR
T1 - Axon fasciculation defects and retinal dysplasias in mice lacking the immunoglobulin superfamily adhesion molecule BEN/ALCAM/SC1
AU - Weiner, Joshua A.
AU - Koo, Sonya J.
AU - Nicolas, Stéphane
AU - Fraboulet, Sandrine
AU - Pfaff, Samuel L.
AU - Pourquié, Olivier
AU - Sanes, Joshua R.
N1 - Funding Information:
We thank Dr. Michael Bowen for antibodies to BEN and to CD6; Drs. Nigel Kileen and Russell Van Gelder for helpful discussions; Mia Wallace and Angela Bartels for help with production and breeding of mice; and Jeanette Cunningham for expert assistance with electron microscopy. Financial support was provided by an NEI postdoctoral fellowship (J.A.W.), the U.C.S.D Medical Scientist Training Program (S.J.K.), grants from the NIH (J.R.S., S.L.P.), the Centre National de la Recherche Scientifique (CNRS), and the Association Française contre les myopathies (AFM) (O.P.), a Biotech contract of the European Union (O.P.), and a fellowship from the Association Française contre les Myopathies (S.F.).
PY - 2004/9
Y1 - 2004/9
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=4444292859&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=4444292859&partnerID=8YFLogxK
U2 - 10.1016/j.mcn.2004.06.005
DO - 10.1016/j.mcn.2004.06.005
M3 - Article
C2 - 15345243
AN - SCOPUS:4444292859
SN - 1044-7431
VL - 27
SP - 59
EP - 69
JO - Molecular and Cellular Neuroscience
JF - Molecular and Cellular Neuroscience
IS - 1
ER -