International Mammalian Genome Society

17th International Mouse Genome Conference

9-12 November 2003, Braunschweig, Germany


Yoon SK
Department of Biomedical Sciences, Research Institute of Medical Sciences, Catholic University, Korea

Co-Authors: 1) Kim J K, 1) Kim E, 2) Cha D S, am 2)Nam Y Y, 2) Song C W
Institutions: 1) Department of Biomedical Sciences, Research Institute of Medical Sciences, Catholic University, Korea, 2) Mutant Mouse Development Laboratory (NRL 2000), Laboratory of Toxicogenomics, Korea Institute of Toxicology, Korea

In the current ENU mutagenesis project, we screened for the pheno-deviants relevant to mammalian development. One of the 63 mutant strains established so far exhibited hair-poor phenotype. This phenotype was inherited in a semidominant manner. While homozygote mice exhibited total alopecia, heterozygote displayed an intermediate phenotype such as short hair and decreased number of hair compared to the control mice. Histologically, the decreased number of hair follicle of vibrissae was noted.

In order to identify the gene responsible for the mutation, the genetic linkage analysis was performed. The BALB/c mutant mice were mated to C57BL/6 for production of F2 mice. Total of 50 mice, 25 homozygote and 25 littermate wild type mice, were used for genetic linkage analysis. Their genotype was determined by PCR according to a general protocol using the microsatellite markers. The causative gene was found to be linked to D14Mit34 (40.0 cM) on chromosome 14 where hr gene was located nearby. Thus, hr gene is an attractive candidate gene for the mutation. From the histopathological analysis, this mutant might be used as an important model for human hair and skin diseases such as papular atrichia in humans.

This work was supported by the National Research Laboratory Program (2000-N-NL-C-207), and the Life Phenomena & Function Research Group Program (M1-0016-00-0040) from the Ministry of Science and Technology of Korea.

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