International Mammalian Genome Society

17th International Mouse Genome Conference

9-12 November 2003, Braunschweig, Germany


Pretel S
The Jackson Laboratory

Co-Authors: Frankel WN, Seburn KL and the JAX-NMF Staff
Institutions: The Jackson Laboratory

The Neuroscience Mutagenesis Facility at The Jackson Laboratory was established to produce mutant mice that may serve as experimental models for human neurological disease.

These mutants are produced by injecting C57BL/6J mice with N-ethyl-N-nitrosourea and identified through genome wide phenotypic screening of third generation (G3) families.

The screens used are focused on the examination of visual, auditory, vestibular, gustatory, olfactory and metabolic functions, seizure threshold, and growth and development progression of G3 families, and include behavioral observations and histological procedures. G3 families that show abnormal screen results are selectively mated and once heritability of the observed abnormal behavior has been confirmed, the affected mice are regarded as mutants. The animals are then further tested to characterize the observed abnormalities.

Using this process, 21 mutants mouse lines have been established during the last two years. The majority (> 80%) of observed mutations is recessive and includes abnormal functions of motor and neuromuscular (n=13), visual (n=3), auditory and vestibular systems (n=1), metabolism (n=1) or abnormal seizure thresholds (n=3).

Detailed phenotypic information about the available mutant mouse lines is available at two web sites: The NMF web site at, as part of The Jackson Laboratory web presentation, and the Neuromice web site at, as part of a newly formed research consortium dedicated to the production and distribution of neurological mutant mouse lines.

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