International Mammalian Genome Society

17th International Mouse Genome Conference

9-12 November 2003, Braunschweig, Germany


Zeitlmann L
Ingenium Pharmaceuticals AG

Co-Authors: Schneider B, Grosse J
Institutions: Ingenium Pharmaceuticals AG

Introduction: INGENIUM uses random mutagenesis of the entire mouse genome to locate novel therapeutic entry points to treat disease. In combination with the information provided by the mouse model itself, INGENIUM rapidly locates the gene responsible for the phenotype by positional cloning and gathers extensive knowledge of the gene's function and how the alteration influences the biological mechanisms that result in disease.

Aims & methods: The aim of this work was to identify novel genes involved in IBD and to characterize their molecular functions. C3HeB/FeJ male mice were repeatedly injected with N-ethyl-N-nitrosourea and mated to wild type female partners. The progeny were bred to the F3 generation to allow homozygosity of mutant alleles and were analyzed for recessive phenotypes.

Results: A variant mouse line, MONTEZUMA, was identified which suffers from chronic diarrhea and impaired growth. Histological analysis demonstrated morphological goblet cell abnormalities and inflammatory infiltration of intestinal epithelia. Affected mice were fertile and the phenotype was transmitted in a recessive fashion. The causative mutation was identified by positional cloning and found to affect a previously uncharacterized gene. Detailed analysis of the phenotype and molecular characterization of the mutated gene will be presented.

Conclusion: We identified a novel gene responsible for IBD-like symptoms in mice. We are currently investigating the therapeutic use of the protein in inflammatory bowel disease and the diagnostic value for prediction of disease predisposition in patients.

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