A novel compound heterozygous leptin receptor mutation causes more severe obesity than in Lepr^db/db mice.

ABSTRACT: The leptin receptor (Lepr) pathway is important for food intake regulation, energy expenditure, and body weight. Mutations in leptin and the Lepr have been shown to cause early-onset severe obesity in mice and humans. In studies with C57BL/6NCrl mice, we found a mouse with extreme obesity. To identify a putative spontaneous new form of monogenic obesity, we performed backcross studies with this mouse followed by a quantitative trait locus (QTL) analysis and sequencing of the selected chromosomal QTL region. We thereby identified a novel Lepr mutation (C57BL/6N-Lepr^{L536Hfs*6-1NKB}), which is located at chromosome 4, exon 11 within the CRH2-leptin-binding site. Compared with C57BL/6N mice, Lepr^L536Hfs*6 develop early onset obesity and their body wei

SUBMITTER: Berger C 

PROVIDER: S-EPMC8450258 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature