International Mammalian Genome Society

The 14th International Mouse Genome Conference (2000)

A14. Fine Mapping of Hague (Hag), A Mouse Hair Mutation with 2 Epialleles

Christophe Poirier1, Atsushi Yoshiki1, Kyoko Fujiwara1, Jean-Louis Guenet2 and Moriaki Kusakabe1
1Experimental Animal Research Division, Biogenic Resources Center, RIKEN Tsukuba Institute, Koyadai 3-1-1, Tsukuba, Ibaraki 305-0074, Japan
2Unite de Genetique des Mammiferes, Institut Pasteur, 25 rue du docteur Roux, 75724 Paris cedex 15, France.

A spontaneous mouse hair mutation was identified in a C3H/HeN colony. The mode of transmission of the mutation was semidominant with incomplete penetrance at the heterozygous level. This trait was controlled by a single locus Hague (Hag) which mapped to the telomeric region of chromosome 15 and no modifier gene was found. Some epigenetic modification could turn the original semidominant allele into a fully recessive one.

To identify the causative gene and the nature of the mutation, Hague was introduced into a high resolution and high density molecular genetic map. More than 1000 meiosis were analyzed and the mutation was mapped to the keratin 2 complex genes. A YAC and BAC physical map of the critical region was then constructed and the gene involved was located in a 600-800kb long segment. From this region several candidate genes including 3 epidermic cytokeratin and four hard keratin genes were analysed but none were mutated in the Hague mice.

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