International Mammalian Genome Society

logo18th International Mouse Genome Conference

17-22 October 2004, Seattle, USA


POSTER 132 - THE GNF ENU MUTAGENESIS SCREEN:  USING ENU MUTAGENESIS TO IDENTIFY GENES INVOLVED IN NEUROBIOLOGY

Tarantino LM 1, Schwander M 2, Dong H 1, Hice R 1, Wiltshire T 1, Mueller U 2

1 Genomics Institute of the Novartis Research Foundation, San Diego, United States, 2 The Scripps Research Institute, La Jolla, United States

The ENU mutagenesis screen at the Genomics Institute of the Novartis Research Foundation (GNF) was originally set up to focus on neurobiology phenotypes.  Over the last three and a half years, the screen has developed into a major effort including screens in immunology, metabolic disorders and cancer.  However, neurobiology remains a major component of the screen.  The neuroscreen was developed to focus on complex behaviors including activity, anxiety, learning and memory and prepulse inhibition.  While these areas are still being actively pursued, some of the focus has shifted to other areas such as vision and hearing.

To date, we have screened over 700 pedigrees and have identified numerous heritable mutants that are in various stages of heritability testing, mapping and cloning.  By far, one of the most successful screens has been our acoustic startle screen that has led to the identification of ten heritable mutants.  Eight of these were subsequently found to be deaf using the auditory brainstem response (ABR) assay.  Two of these mutants have been mapped and one has been cloned.

The mutant, distracted, was mapped to Chromosome 10 and a point mutation has been identified in the Cdh23 gene.  The characterization of this mutant will be discussed as well as progress on mapping and cloning additional mutants.  The use of acoustic startle as a high-throughput screen for deafness will also be addressed. 

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