Contrasting behavioral and physiological effects of Gtf2i duplication and deletion in mouse models of the 7q11.23 Duplication and Williams-Beuren Syndromes

7q11.23 Microduplication Syndrome (7Dup) and Williams-Beuren Syndrome (WBS) are two ASD-related syndromes characterized by both common and contrasting symptoms, caused by either duplication or deletion of a 1.5-1.8 Mb segment in section q11.23 of Human chromosome 7, respectively. Notably, WBS patients show reduced social fear and are considered hyper-social, while 7Dup patients suffer from social anxiety and withdrawal. Previous work suggests that the GTF2I gene, one of the genes included in this segment, has a major role in the social symptoms of both syndromes. Here, we combine video and thermal imaging in multiple social behavior tests to screen for behavioral and physiological variables showing variations in mice models with either a duplication ( Gtf2i ^+/dup ) or a deletion ( Gtf2i ^+/del ) of the gene. Our analyses of social behavior, micturition, and defecation patterns identify several differences between wild-type and mutant littermates, some of which show contrasting variations associated with Gtf2i dosage. Interestingly, thermal imaging revealed that Gtf2i dosage dictates the mice’s surface temperature profile during the tests, with Gtf2i ^+/dup males exhibiting higher surface temperature than their wild-type littermates, while Gtf2i ^+/del males and females show the opposite tendency. These results suggest that the two mouse models exhibit opposite changes in either their emotional state or thermoregulation capabilities, in correlation with Gtf2i dosage.