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The Tennessee Mouse Genome Consortium: Identification of ocular mutants

Published online by Cambridge University Press:  06 December 2005

MONICA M. JABLONSKI ,
XIAOFEI WANG ,
LU LU ,
DARLA R. MILLER ,
EUGENE M. RINCHIK ,
ROBERT W. WILLIAMS  and
DANIEL GOLDOWITZ
MONICA M. JABLONSKI
Affiliation:
Department of Ophthalmology, University of Tennessee Health Science Center, Memphis Center of Genomics and Bioinformatics, University of Tennessee Health Science Center, Memphis Department of Anatomy and Neurobiology, University of Tennessee Health Science Center, Memphis Tennessee Mouse Genome Consortium
XIAOFEI WANG
Affiliation:
Department of Ophthalmology, University of Tennessee Health Science Center, Memphis Center of Genomics and Bioinformatics, University of Tennessee Health Science Center, Memphis Tennessee Mouse Genome Consortium
LU LU
Affiliation:
Center of Genomics and Bioinformatics, University of Tennessee Health Science Center, Memphis Department of Anatomy and Neurobiology, University of Tennessee Health Science Center, Memphis Tennessee Mouse Genome Consortium
DARLA R. MILLER
Affiliation:
Life Sciences Division, Oak Ridge National Laboratory, Oak Ridge Tennessee Mouse Genome Consortium
EUGENE M. RINCHIK
Affiliation:
Life Sciences Division, Oak Ridge National Laboratory, Oak Ridge Tennessee Mouse Genome Consortium
ROBERT W. WILLIAMS
Affiliation:
Center of Genomics and Bioinformatics, University of Tennessee Health Science Center, Memphis Department of Anatomy and Neurobiology, University of Tennessee Health Science Center, Memphis Tennessee Mouse Genome Consortium
DANIEL GOLDOWITZ
Affiliation:
Center of Genomics and Bioinformatics, University of Tennessee Health Science Center, Memphis Department of Anatomy and Neurobiology, University of Tennessee Health Science Center, Memphis Tennessee Mouse Genome Consortium
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Abstract

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.

Keywords

MutagenesisEthylnitrosoureaOcular phenotypingRetinaMouse
Type
Research Article
Information
Visual Neuroscience , Volume 22 , Issue 5 , September 2005 , pp. 595 - 604
Copyright
© 2005 Cambridge University Press

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