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Background  The long bone abnormality ( lbab ) mouse is a new autosomal recessive mutant characterized by overall smaller body size with proportionate dwarfing of all organs and shorter long bones. Previous linkage analysis has located the  lbab  mutation on chromosome 1 between the markers  D1Mit9  and  D1Mit488 .    Results  A genome-based positional approach was used to identify a mutation associated with  lbab  disease. A total of 122 genes and expressed sequence tags at the  lbab  region were screened for possible mutation by using genomic DNA from  lbabl/lbab, lbab /+, and +/+ B6 mice and high throughput temperature gradient capillary electrophoresis. A sequence difference was identified in one of the amplicons of gene  Nppc  between  lbab/lbab  and +/+ mice. One-step reverse transcriptase polymerase chain reaction was performed to validate the difference of  Nppc  in different types of mice at the mRNA level. The mutation of  Nppc  was unique in  lbab/lbab  mice among multiple mouse inbred strains. The mutation of  Nppc  is co-segregated with  lbab  disease in 200 progenies produced from heterozygous  lbab /+ parents.    Conclusion  A single nucleotide mutation of  Nppc  is associated with dwarfism in  lbab/lbab  mice. Current genome information and technology allow us to efficiently identify single nucleotide mutations from roughly mapped disease loci. The  lbab  mouse is a useful model for hereditary human achondroplasia.

A single nucleotide mutation in Nppc is associated with a long bone abnormality in lbab mice