Figure 5
From: Identification of mutations through dominant screening for obesity using C57BL/6 substrains
Identification of a single nucleotide substitution in the Mc4r gene in the Obese-10 pedigree.
(a) The body weights of Obese-10 pedigree N2 littermates (bars) are deviated toward overweight compared with the body weight distribution of the screened F1 mice (line, same as in Fig. 2a). (b) QTL analysis of the Obese-10 pedigree (n = 206) for body weight showed a single LOD score peak between rs13483369 and rs29690544 on chromosome 18. (c) Haplotype analysis of Obese-10 N2 mice indicates that the mutation falls between rs13483369 and rs29690544 (arrow) on chromosome 18. (d) Direct sequencing of the Mc4r gene identified a thymine-to-adenine substitution specific to obese mice of the Obese-10 pedigree. (e) The mutation results in a premature stop codon at the start of the first transmembrane domain of the MC4R, a G-protein coupled receptor.
