The Tennessee Mouse Genome Consortium (TMGC) is in its fifth year of a
ethylnitrosourea (ENU)-based mutagenesis screen to detect recessive
mutations that affect the eye and brain. Each pedigree is tested by
various phenotyping domains including the eye, neurohistology, behavior,
aging, ethanol, drug, social behavior, auditory, and epilepsy domains. The
utilization of a highly efficient breeding protocol and coordination of
various universities across Tennessee makes it possible for mice with
ENU-induced mutations to be evaluated by nine distinct phenotyping domains
within this large-scale project known as the TMGC. Our goal is to create
mutant lines that model human diseases and disease syndromes and to make
the mutant mice available to the scientific research community. Within the
eye domain, mice are screened for anterior and posterior segment
abnormalities using slit-lamp biomicroscopy, indirect ophthalmoscopy,
fundus photography, eye weight, histology, and immunohistochemistry. As of
January 2005, we have screened 958 pedigrees and 4800 mice, excluding
those used in mapping studies. We have thus far identified seven pedigrees
with primary ocular abnormalities. Six of the mutant pedigrees have
retinal or subretinal aberrations, while the remaining pedigree presents
with an abnormal eye size. Continued characterization of these mutant mice
should in most cases lead to the identification of the mutated gene, as
well as provide insight into the function of each gene. Mice from each of
these pedigrees of mutant mice are available for distribution to
researchers for independent study.