Burly1 is a mouse QTL for lean body mass that maps to a 0.8-Mb region on chromosome 2

Our goal was to fine map a mouse QTL for lean body mass (Burly1) using information from several populations including newly created congenic mice derived from the B6 (host) and 129 (donor) strains. The results from each mapping population were concordant and showed that Burly1 is likely a single QTL in a 0.8-Mb region at 151.9-152.7 Mb (rs33197365 to rs3700604) on mouse chromosome 2. Results from mice of all the mapping populations we studied including intercrossed, backcrossed, consomic, and congenic strains indicate that lean body mass was increased by the B6-derived allele relative to the 129-derived allele. We determined that the congenic region harboring Burly1 contains 26 protein-coding genes, 11 noncoding RNA elements (e.g., lncRNA), and 4 pseudogenes, with 1949 predicted functional variants. The effect of the Burly1 locus on lean body weight was apparent at all ages measured and did not affect food intake or locomotor activity. However, congenic mice with the B6-allele produced more heat per kilogram of lean body weight than did controls, pointing to a genotype effect on lean mass metabolism. These results show the value of integrating information from several mapping populations to refine the map location of body composition QTLs.