International Mammalian Genome Society

The 15th International Mouse Genome Conference (2001)


POSTER 235 - NEW MOUSE MODELS FOR HUMAN GENETIC DISEASE

Dr. Birgit Rathkolb
Institute of Molecular Animal Breeding & Biotechnology
Hackerstr. 27
D-85764 Oberschleißheim
Germany

Co-Authors: 2)Fuchs E, 3)Hrabe de Angelis M, 3)Soewarto D, 4)Hillebrandt S, 4)Lammert F, 5)Gekeler F, 5)Klopstock T,  2)Kolb H, 1)Wolf E
Institutions: 1)Institute for Molecular Animal Breeding and Biotechnology, 2)Institute of Clinical Chemistry, City Hospital Harlaching, 3)Institut of Experimental Genetics, GSF-Researchcenter, 4) University Hospital RWTH Aachen  5)Department of  Neurology, University Hospital Großhadern

Mouse mutants are important tools to unravel molecular mechanisms of human disease. The Clinical Chemical Screen within the Munich ENU-Mouse-Mutagenesis Project established more than 50 new mutant mouse strains with hematological, clinical and clinical-chemical phenotypes so far. For a description of the screening protocol see Mamm. Genome Vol.11, No.7, pp 543-546. An overview of the mutant strains is given by the poster of the Core Facility. Three selected strains are presented in more detail on this poster:

LEU001 is a mouse mutant characterized by elevated liverenzyme (ALT, AST), alkaline Phosphatase activity and reduced cholesterole concentrations in plasma. The phenotype becomes stronger with aging, indicating a progressive liver disease.

MYO001 carries a recessive phenotype showing increased activities of the muscle enzymes (CK, AST). Breeding tests showed the mutation being x-linked, making a mutation of the dystrophin gene very likely. An immunohistological investigation of muscle tissue of affected mice showed that dystrophin is absent in muscles of homozygous mutant mice. MYO001 therefore is a mouse model for Muscle Dystrophy. Sequenzing of the dystrophin gene is pending.

HST001 is a  mouse strain carrying a dominant mutation with a phenotype characterized by slowly increasing urea levels in plasma. Bodyweight gain in mutant mice is reduced from an age of three month on, while food intake is increased. Beside that, increasing urea levels are accompanied by progressive anemia. Therefore this mutant mouse may be an interesting model of chronic, slowly progressing kidney disease.


Abstracts * Officers * Bylaws * Application Form * Meeting Calendar * Contact Information * Home * Resources * News and Views * Membership

Base url http://imgs.org
Last modified: Saturday, November 3, 2012