Simon Greenaway

TL;DR: A genome-wide, phenotype-driven screen for dominant mutations in the mouse is undertaken, which has led to a substantial increase in themouse mutant resource and represents a first step towards systematic studies of gene function in mammalian genetics.

TL;DR: Comparison of C57BL/6J and C57bl/6N demonstrates a range of phenotypic differences that have the potential to impact upon penetrance and expressivity of mutational effects in these strains.

TL;DR: A large proportion of mammalian traits both in wildtype and mutants are influenced by sex, and this result has implications for interpreting disease phenotypes in animal models and humans.

TL;DR: Analyzing the first 3,328 genes identified models for 360 diseases, including the first models, to the knowledge, for type C Bernard–Soulier, Bardet–Biedl-5 and Gordon Holmes syndromes, and 90% of phenotype annotations were novel, providing functional evidence for 1,092 genes and candidates in genetically uncharacterized diseases.

TL;DR: New phenotypes were uncovered for many genes with previously unknown function, providing a powerful basis for hypothesis generation and further investigation in diverse systems.