title: Genetic deletion of a neural cell adhesion molecule variant (N-CAM-180) produces distinct defects in the central nervous system.
abstract: N-CAM is abundantly expressed in the nervous system in the form of numerous structural variants with characteristic distribution patterns and functional properties. N-CAM-180, the variant having the largest cytoplasmic domain, is expressed by all neurons. The N-CAM-180-specific exon 18 has been deleted to generate homozygous mice unable to express this N-CAM form. The most conspicuous mutant phenotype was in the olfactory bulb, where granule cells were both reduced in number and disorganized. In addition, precursors of these cells were found to be accumulated at their origin in the subependymal zone at the lateral ventricle. Analysis of the mutant in this region suggests that the mutant phenotype involves a defect in cell migration, possibly through specific loss of the polysialylated form of N-CAM-180, which is expressed in the migration pathway. Subtle but distinct abnormalities also were observed in other regions of the brain.
authors.affiliation: Department of Genetics, Case Western Reserve University, Cleveland, Ohio 44106-4955.
authors.forename: H
authors.initials: H
authors.lastname: Tomasiewicz
authors.forename: K
authors.initials: K
authors.lastname: Ono
authors.forename: D
authors.initials: D
authors.lastname: Yee
authors.forename: C
authors.initials: C
authors.lastname: Thompson
authors.forename: C
authors.initials: C
authors.lastname: Goridis
authors.forename: U
authors.initials: U
authors.lastname: Rutishauser
authors.forename: T
authors.initials: T
authors.lastname: Magnuson
mesh_terms: D000199:Actins / Q000235:genetics; D000375:Aging; D000818:Animals; D001483:Base Sequence; D001921:Brain / Q000002:abnormalities* / Q000254:growth & development / Q000473:pathology; D015816:Cell Adhesion Molecules, Neuronal / Q000096:biosynthesis / Q000235:genetics*; D017931:DNA Primers; D005091:Exons; D005260:Female; D017353:Gene Deletion; D014644:Genetic Variation; D015698:Genomic Library; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D008815:Mice, Inbred Strains; D008822:Mice, Transgenic; D008969:Molecular Sequence Data; D009474:Neurons / Q000473:pathology; D009830:Olfactory Bulb / Q000002:abnormalities* / Q000254:growth & development / Q000473:pathology; D009838:Oligodeoxyribonucleotides; D016133:Polymerase Chain Reaction; D011401:Promoter Regions, Genetic
chemical_list: D000199:Actins; D015816:Cell Adhesion Molecules, Neuronal; D017931:DNA Primers; D009838:Oligodeoxyribonucleotides