title: A modifier locus on chromosome 5 contributes to L1 cell adhesion molecule X-linked hydrocephalus in mice.
abstract: Humans with L1 cell adhesion molecule (L1CAM) mutations exhibit X-linked hydrocephalus, as well as other severe neurological disorders. L1-6D mutant mice, which are homozygous for a deletion that removes the sixth immunoglobulin-like domain of L1cam, seldom display hydrocephalus on the 129/Sv background. However, the same L1-6D mutation produces severe hydrocephalus on the C57BL/6J background. To begin to understand how L1cam deficiencies result in hydrocephalus and to identify modifier loci that contribute to X-linked hydrocephalus by genetically interacting with L1cam, we conducted a genome-wide scan on F2 L1-6D mice, bred from L1-6D 129S2/SvPasCrlf and C57BL/6J mice. Linkage studies, utilizing chi-square tests and quantitative trait loci mapping techniques, were performed. Candidate modifier loci were further investigated in an extension study. Linkage was confirmed for a locus on chromosome 5, which we named L1cam hydrocephalus modifier 1 (L1hydro1), p = 4.04 X 10(-11).
authors: The Miami Project to Cure Paralysis, Miller School of Medicine, University of Miami, Lois Pope LIFE Center, Room 4-16, 1095 NW 14th Terrace, Miami, FL 33136, USA.
authors: Alexis
authors: A
authors: Tapanes-Castillo
authors: Eli J
authors: EJ
authors: Weaver
authors: Robin P
authors: RP
authors: Smith
authors: Yoshimasa
authors: Y
authors: Kamei
authors: Tamara
authors: T
authors: Caspary
authors: Kara L
authors: KL
authors: Hamilton-Nelson
authors: Susan H
authors: SH
authors: Slifer
authors: Eden R
authors: ER
authors: Martin
authors: John L
authors: JL
authors: Bixby
authors: Vance P
authors: VP
authors: Lemmon
mesh_terms: D000818:Animals; D001921:Brain / Q000473:pathology; D002874:Chromosome Mapping; D004195:Disease Models, Animal; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D018345:Mice, Knockout; D009154:Mutation; D039842:Neural Cell Adhesion Molecule L1 / Q000235:genetics*; D040641:Quantitative Trait Loci
chemical_list: D039842:Neural Cell Adhesion Molecule L1