Comparative genetic analysis: the utility of mouse genetic systems for studying human monogenic disease

One of the long-term goals of mutagenesis programs in the mouse has been to generate mutant lines to facilitate the functional study of every mammalian gene. With a combination of complementary genetic approaches and advances in technology, this aim is slowly becoming a reality. One of the most important features of this strategy is the ability to identify and compare a number of mutations in the same gene, an allelic series. With the advent of gene-driven screening of mutant archives, the search for a specific series of interest is now a practical option. This review focuses on the analysis of multiple mutations from chemical mutagenesis projects in a wide variety of genes and the valuable functional information that has been obtained from these studies. Although gene knockouts and transgenics will continue to be an important resource to ascertain gene function, with a significant proportion of human diseases caused by point mutations, identifying an allelic series is becoming an equally efficient route to generating clinically relevant and functionally important mouse models

Search for resonant production of second-generation sleptons with same-sign dimuon events in proton-proton collisions at root s=13 TeV

A search is presented for resonant production of second-generation sleptons ( μ˜L , ν˜μ ) via the R-parity-violating coupling λ′211 to quarks, in events with two same-sign muons and at least two jets in the final state. The smuon (muon sneutrino) is expected to decay into a muon and a neutralino (chargino), which will then decay into a second muon and at least two jets. The analysis is based on the 2016 data set of proton-proton collisions at s√=13TeV recorded with the CMS detector at the LHC, corresponding to an integrated luminosity of 35.9 fb−1 . No significant deviation is observed with respect to standard model expectations. Upper limits on cross sections, ranging from 0.24 to 730 fb , are derived in the context of two simplified models representing the dominant signal contributions leading to a same-sign muon pair. The cross section limits are translated into coupling limits for a modified constrained minimal supersymmetric model with λ′211 as the only nonzero R-parity violating coupling. The results significantly extend restrictions of the parameter space compared with previous searches for similar models