The genetic basis of obesity-associated type 2 diabetes (diabesity) in polygenic mouse models.
Potsdam, Germany. In Mamm Genome, 2014
Outcross populations of these models have been employed in the genome-wide search for mouse diabetes genes, and have led to positional cloning of the strong candidates Pctp, Tbc1d1, Zfp69, and Ifi202b (NZO-derived obesity) and Sorcs1, Lisch-like, Tomosyn-2, App, Tsc2, and Ube2l6 (obesity caused by the ob or db mutation).
A de novo Alu insertion results in neurofibromatosis type 1.
Ann Arbor, United States. In Nature, 1991
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder with a high mutation rate and variable expression, characterized by neurofibromas, café-au-lait spots, Lisch nodules of the iris, and less frequent features including bone deformities and learning disabilities.