Behavior of mice with mutations in the conserved region deleted in velocardiofacial/DiGeorge syndrome.

摘要: Velocardiofacial/DiGeorge syndrome (VCFS/DGS) is a developmental disorder caused by 1.5 to 3-Mb hemizygous 22q11.2 deletion. VCFS/DGS patients display malformations in multiple systems, as well an increased frequency of neuropsychiatric defects including schizophrenia. Haploinsufficiency TBX1 appears be responsible for these physical humans and mice, but the genes are unknown. In this study, two mouse models VCFS/DGS, deletion model (Lgdel/+) single gene (Tbx1 +/−), third mutant (Gscl −/−) within Lgdel deletion, were tested large behavioral battery designed assess gross features, sensorimotor reflexes, motor activity nociception, acoustic startle, gating, learning memory. Lgdel/+ mice contain 1.5-Mb 27 orthologous region on MMU 16 present with impairment grip strength, nociception. Tbx1 +/− impaired strength similar movement initiation. Gscl −/− not any administered tests, suggesting that redundant function other Gsc family members may compensate loss Gscl. Thus, although recapitulate some phenotypes seen found complete Gscl or heterozygous Tbx1, act different genetic mechanisms.