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01-02-2010 | ORIGINAL ARTICLE

A modifier locus on chromosome 5 contributes to L1 cell adhesion molecule X-linked hydrocephalus in mice

Authors: Alexis Tapanes-Castillo, Eli J. Weaver, Robin P. Smith, Yoshimasa Kamei, Tamara Caspary, Kara L. Hamilton-Nelson, Susan H. Slifer, Eden R. Martin, John L. Bixby, Vance P. Lemmon

Published in: Neurogenetics | Issue 1/2010

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), \( p = 4.04 \times {10^{ - 11}} \).

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Title: A modifier locus on chromosome 5 contributes to L1 cell adhesion molecule X-linked hydrocephalus in mice
Authors: Alexis Tapanes-Castillo
Eli J. Weaver
Robin P. Smith
Yoshimasa Kamei
Tamara Caspary
Kara L. Hamilton-Nelson
Susan H. Slifer
Eden R. Martin
John L. Bixby
Vance P. Lemmon
Publication date: 01-02-2010
Publisher: Springer-Verlag
Published in: Neurogenetics / Issue 1/2010
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-009-0203-3

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A modifier locus on chromosome 5 contributes to L1 cell adhesion molecule X-linked hydrocephalus in mice

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