title: Genetic landmarks for defects in mouse neural tube closure.
abstract: Many mutations cause neural tube closure defects (NTDs, exencephaly or spina bifida) in mice and the gene loci are widely distributed in the mouse genome. This compilation summarizes the map position of 40 mouse NTD mutations and the corresponding human linkage homology of each. It includes the nature of the gene product where known, and whether the NTD is part of a syndrome involving other developmental systems. Also listed are the several mouse strains known to have genetic susceptibility to exencephaly, with multifactorial genetic cause in at least one case. The purposes of this mouse NTD compilation are to enable recognition of patterns in genetic causes of NTDs, of molecular pathways essential for closure of specific regions of the mammalian neural tube, and of candidate regions for mapping loci contributing to human multifactorial NTDs.
authors.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, Canada. mjharris@unixg.ubc.ca
authors.forename: M J
authors.initials: MJ
authors.lastname: Harris
authors.forename: D M
authors.initials: DM
authors.lastname: Juriloff
mesh_terms: D000818:Animals; D001921:Brain / Q000002:abnormalities*; D002874:Chromosome Mapping; D005819:Genetic Markers; D006801:Humans; D051379:Mice; D008815:Mice, Inbred Strains; D008817:Mice, Mutant Strains / Q000235:genetics*; D009436:Neural Tube Defects / Q000235:genetics*; D010641:Phenotype
chemical_list: D005819:Genetic Markers