Faculty Research 1990 - 1999
Multifactorial inheritance of neural tube defects: localization of the major gene and recognition of modifiers in ct mutant mice.
Document Type
Article
Publication Date
1994
Keywords
Animal, Base-Sequence, Chromosome-Mapping, Crosses-Genetic, Disease-Models-Animal, Endoderm: pa, Epistasis-Genetic, Genes-Structural, Lod-Score, Mice, Mice-Inbred-BALB-C, Mice-Inbred-C57BL, Mice-Inbred-DBA, Mice-Inbred-Strains: em, ge, Mice-Mutant-Strains: em, ge, Molecular-Sequence-Data, Muridae: ge, Neural-Tube-Defects: ge, Spinal-Dysraphism: em, ge, pp, pa, Stress-Mechanical, SUPPORT-NON-U-S-GOVT, SUPPORT-U-S-GOVT-P-H-S, Tail: ab, em
First Page
357
Last Page
362
JAX Source
Nat Genet 1994 Apr;6(4):357-62
Grant
HD28882/HD/NICHD, CA28735/CA/NCI, HD06763/HD/NICHD
Abstract
Neural tube defects (NTD) in humans have been considered to have a multifactorial aetiology, however the participating genes have not been identified. The curly-tail (ct) mutant mouse develops NTD that resemble the human malformations in location, pathology and associated abnormalities. Moreover, there appears to be multifactorial influence on the incidence of NTD in offspring of curly-tail mice. We now describe a linkage analysis that localizes the ct gene to distal chromosome 4 in mice. Further analysis using recombinant inbred strains demonstrates the presence of at least three modifier loci that influence the incidence of NTD. This study provides definitive evidence for multifactorial inheritance in a mouse model of human NTD.
Recommended Citation
Neumann PE,
Frankel WN,
Letts VA,
Coffin JM,
Copp AJ,
Bernfield M.
Multifactorial inheritance of neural tube defects: localization of the major gene and recognition of modifiers in ct mutant mice. Nat Genet 1994 Apr;6(4):357-62