% pubman genre = article
@article{item_3345127,
title = {{A novel compound heterozygous leptin receptor mutation causes more severe obesity than in Lepr mice}},
author = {Berger, Claudia and Heyne, Henrike O. and Heiland, Tina and Dommel, Sebastian and H{\"o}fling, Corinna and Guiu-Jurado, Esther and Lorenz, Jana and Ro{\ss}ner, Steffen and Dannemann, Michael and Kelso, Janet and Kovacs, Peter and Bl{\"u}her, Matthias and Kl{\"o}ting, Nora},
language = {eng},
issn = {00222275},
doi = {10.1016/j.jlr.2021.100105},
year = {2021},
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-LeprL536Hfs{\textasteriskcentered}6-1NKB), which is located at chromosome 4, exon 11 within the CRH2-leptin-binding site. Compared with C57BL/6N mice, LeprL536Hfs{\textasteriskcentered}6 develop early onset obesity and their body weight exceeds that of Leprdb/db mice at an age of 30 weeks. Similar to Leprdb/db mice, the LeprL536Hfs{\textasteriskcentered}6 model is characterized by hyperphagia, obesity, lower energy expenditure and activity, hyperglycemia, and hyperinsulinemia compared with C57BL/6N mice. Crossing Leprdb/wt with LeprL536Hfs{\textasteriskcentered}6/wt mice results in compound heterozygous LeprL536Hfs{\textasteriskcentered}6/db mice, which develop even higher body weight and fat mass than both homozygous Leprdb/db and LeprL536Hfs{\textasteriskcentered}6 mice. Compound heterozygous Lepr deficiency affecting functionally different regions of the Lepr causes more severe obesity than the parental homozygous mutations.}},
journal = {{Journal of Lipid Research}},
volume = {62},
eid = {100105},
}