Idiopathic scoliosis (IS) is a common but poorly understood syndrome. Congenital 
scoliosis (CS) is less common but comparably unexplored. Previous studies 
suggest that each has a significant genetic component. However, the occurrence 
of scoliosis in the presence of other hereditary connective tissue syndromes 
raises the possibility that IS and CS are in fact a heterogeneous group of 
disorders with varied pathogenetic mechanisms. Mouse mutations have proven 
informative in identifying genes that are important in the development of the 
musculoskeletal system and provided important mechanistic insights regarding 
their roles in human disease. We sought to identify candidate genes for human IS 
and CS by reviewing mouse mutations with phenotypes affecting the axial 
skeleton. We performed a systematic review using the Mouse Genome Database 
(MGD), the Genome Database (GDB), and the Online Mendelian Inheritance in Man 
(OMIM) world-wide-web sites with additional searches performed based on the 
results of this initial search. We identified approximately 400 mouse mutations, 
reviewed approximately 250 of these for vertebral phenotypes, assessed 45 of 
these for synteny conservation between mouse and man, and identified 28 mouse 
mutations for which 29 credible candidates for human scoliosis could be 
identified based on mouse phenotypic and mapping data. For each of these, we 
have synthesized information about the mouse mutant phenotype, mapping data, 
information regarding molecular pathogenesis when a specific causative gene has 
been identified, and information regarding plausible candidates based on map 
position when the causative gene has not been identified. Among these were three 
loci for which the mutant gene had been identified and the human homologue was 
known. Some of the mouse mutants have phenotypes similar to human syndromes.