Hague (Hag): A New Mouse Hair Mutation With an Unstable Semidominant Allele

Hague (Hag): A New Mouse Hair Mutation With an Unstable Semidominant Allele

Christophe Poirier^a, Atsushi Yoshiki^a, Kyoko Fujiwara^a, Jean-Louis Guénet^b, and Moriaki Kusakabe^a,c
^a Experimental Animal Division, BioResource Center, RIKEN Tsukuba Institute, Tsukuba, Ibaraki 305-0074, Japan,
^b Unite de Genetique des Mammiferes, Institut Pasteur, 75724 Paris Cedex 15, France
^c Department of Anatomy, The Jikei University School of Medicine, Minato-ku, Tokyo 105-8461, Japan

Corresponding author: Atsushi Yoshiki, BioResource Ctr., RIKEN Tsukuba Institute, 3-1-1 Koyadai, Tsukuba, Ibaraki 305-0074, Japan., yoshiki{at}rtc.riken.go.jp (E-mail)

Communicating editor: D. KINGSLEY

A spontaneous mouse hair mutation was identified in a C3H/HeNcolony. The mode of inheritance of the mutation was semidominant,with incomplete penetrance when heterozygous. The trait is controlledby a single locus hague (Hag), which was mapped to the telomericregion of chromosome 15. This mutation was shown to be unstable,since its transmission could be switched from semidominant torecessive. To identify the causative gene and the nature ofthe mutation, hague was introduced into a high-resolution andhigh-density molecular genetic map. Over 2000 meioses were analyzedand the mutation was mapped to the keratin 2 complex genes.A YAC and BAC physical map of the critical region was then constructedand the gene involved was located in a 600- to 800-kb-long segment.Fourteen genes were mapped to this region; of these, 11 wereexpressed in the skin (5 epidermic cytokeratin and 6 hard keratingenes), but none were mutated in hague mice.

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