An emerging theme of studies with spontaneous, engineered and induced mutant mice is
that phenotypes often depend on genetic background, implying that genetic modifiers have …

Interest in modifier genes is growing rapidly because of their ability to modulate the
phenotype of individuals with monogenic and multigenic traits and diseases. A neglected …

A number of genetic disorders exhibit inter-and intra-familial variability. Understanding the
factors that control the expression of disease genes should provide insight into the …

The history of mouse genetics, which involves the study of strain-dependent phenotype
variability, makes it clear that the genetic background onto which a gene-targeted allele is …

Background and Purpose: In mice, genetic engineering involves two general approaches—
addition of an exogenous gene, resulting in transgenic mice, and use of knockout mice …

It has taken about 100 years since the mouse first captured our imagination as an intriguing
animal for it to become the premier genetic model organism. An expanding repertoire of …

The lack of genotype–phenotype correlations in single gene disorders with “simple”
Mendelian inheritance has been a frustration and a disappointment to clinical geneticists …

Substantial clinical variability is observed in many Mendelian diseases, so that patients with
the same mutation may develop a very severe form of disease, a mild form or show no …

Most heritable traits, including disease susceptibility, are affected by interactions between
multiple genes. However, we understand little about how genes interact because very few …

Genetic changes that altered the function of gene regulatory elements have been implicated
in the evolution of human traits such as the expansion of the cerebral cortex. However …