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The rat pink-eyed dilution (p) mutation: An identical intragenic deletion in pink-eye dilute-coat strains and several Wistar-derived albino strains

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Abstract

We identified the rat pink-eyed dilution (p) and pink eye Mishima (pm) mutations. The pm mutation, which was isolated from a wild rat caught in Mishima Japan in 1961 and is carried in the NIG-III strain, is a splice donor site mutation in intron 5. The p mutation, which was first described in 1914 and is carried in several p/p rats including the RCS and BDV strains, is an intragenic deletion including exons 17 and 18. In addition to RCS and BDV strains, several albino strains, KHR, KMI and WNA, all descendants of albino stock of the Wistar Institute, are homozygous for the p allele. Analyses revealed that the colored p strains and the Wistar-derived albino p strains had the same marker haplotype spanning approximately 4 Mb around the P locus. This indicates that these p strains share a common ancestor and the p allele did not arise independently via recurrent mutations. The historical relationship among the p strains suggests that the p deletion had been maintained in stock heterogeneous for the C and P loci and then was inherited independently by the ancestor of the Wistar albino stock and the ancestor of the pink-eyed agouti rats in Europe.

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Acknowledgments

The authors thank Drs. J. Kitoh and M. Nishimura, Institute of Laboratory Animals, Graduate School of Medicine, Nagoya University, for providing valuable information on the WNA rat. They also thank Ms. M. Yokoe for technical assistance. This work was supported in part by a Grant-in-aid for Scientific Research from the Japan Society for the Promotion of Science, and by a Grant-in-aid for Cancer Research from the Ministry of Health, Labour and Welfare. KHR, KMI, NIG-III, RCS/Kyo, and WNA rat strains have been deposited in the National BioResource Project for the Rat in Japan and can be obtained from the Project (http://www.anim.med.kyoto-u.ac.jp/nbr/).

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Authors and Affiliations

  1. Institute of Laboratory Animals, Graduate School of Medicine, Kyoto University, Yoshidakonoe-cho, Sakyo-ku, Kyoto, 606-8501, Japan

    Takashi Kuramoto, Hiroshi Gohma & Tadao Serikawa

  2. Central Research Laboratories, Kaken Pharmaceutical Co. Ltd., 301 Gensuke, Fujieda, 426-8646, Japan

    Kunio Kimura

  3. Institute for Laboratory Animal Breeding, Hannover Medical School, Carl-Neuberg-Strasse 1, Hannover, 30625, Germany

    Dirk Wedekind & Hans J. Hedrich

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  1. Takashi Kuramoto
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  2. Hiroshi Gohma
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  3. Kunio Kimura
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  4. Dirk Wedekind
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  5. Hans J. Hedrich
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  6. Tadao Serikawa
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Correspondence to Takashi Kuramoto.

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Kuramoto, T., Gohma, H., Kimura, K. et al. The rat pink-eyed dilution (p) mutation: An identical intragenic deletion in pink-eye dilute-coat strains and several Wistar-derived albino strains. Mamm Genome 16, 712–719 (2005). https://doi.org/10.1007/s00335-005-0061-8

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  • DOI: https://doi.org/10.1007/s00335-005-0061-8

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