title: A reeler mutant mouse with a new, spontaneous mutation in the reelin gene.
abstract: In one of our mouse colonies a reeler-like phenotype appeared spontaneously. The brain histology was identical to the known reeler phenotype. Northern and Western blot analysis and a complementation test showed that the defect is located to the reelin gene. Southern blot and PCR analysis together with information obtained from sequence databases revealed that this defective reelin gene had an approximately 24-kb intragenic deletion comprising exons 13-20.
authors.affiliation: Department of Biochemistry and Molecular Biology, University of Southern Denmark, Campusvej 55, DK-5230 Odense, Denmark.
authors.forename: Tom E
authors.initials: TE
authors.lastname: Andersen
authors.forename: Bente
authors.initials: B
authors.lastname: Finsen
authors.forename: Andre M
authors.initials: AM
authors.lastname: Goffinet
authors.forename: Olaf-Georg
authors.initials: OG
authors.lastname: Issinger
authors.forename: Brigitte
authors.initials: B
authors.lastname: Boldyreff
mesh_terms: D000818:Animals; D001483:Base Sequence / Q000235:genetics; D015816:Cell Adhesion Molecules, Neuronal / Q000172:deficiency / Q000235:genetics*; D002531:Cerebellum / Q000002:abnormalities / Q000503:physiopathology; D004247:DNA / Q000032:analysis / Q000235:genetics; D015536:Down-Regulation / Q000235:genetics; D005091:Exons / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000172:deficiency / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D008297:Male; D051379:Mice; D008818:Mice, Neurologic Mutants / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins; D010641:Phenotype; D012333:RNA, Messenger / Q000378:metabolism; D000091042:Reelin Protein; D012697:Serine Endopeptidases
chemical_list: D015816:Cell Adhesion Molecules, Neuronal; D016326:Extracellular Matrix Proteins; D009419:Nerve Tissue Proteins; D012333:RNA, Messenger; D000091042:Reelin Protein; D004247:DNA; C000717128:Reln protein, mouse; D012697:Serine Endopeptidases