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The rat microphthalmia-associated transcription factor gene (Mitf) maps at 4q34-q41 and is mutated in the mib rats

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Abstract.

The rat gene encoding the microphthalmia-associated transcription factor (Mitf) was assigned to rat Chromosome (Chr) 4q34-q41, as well as the Gata2 and Mem1 genes. Rat Chr 4 is homologous to mouse Chr 6 and human Chr 3, which carry the Mitf (MITF) gene in these species (MMU 6, 40.0 cM, and HSA 3p14.1-p12.3). mib/mib rats, which are characterized by depigmentation, microphtalmy, osteopetrosis, and neurological disorders were shown to bear a deletion covering several kilobases of genomic DNA in the Mitf gene and to lack Mitf mRNA. The Mitf mutation in the mib/mib rats is thus very likely to be a Mitf null mutation, causing a phenotype similar to the one observed in the mi VGA-9 mice, but including osteopetrosis as an additional feature.

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Authors and Affiliations

  1. Laboratory of Developmental Neurogenetics, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA, , , , , , US

    Karin Opdecamp & Heinz Arnheiter

  2. Université Libre de Bruxelles, Département de Biologie Moléculaire, Rue des Chevaux, 67; B-1640 Rhode-St-Genèse, Belgium, , , , , , BE

    Pascale Vanvooren, Michèle Rivière & Claude Szpirer

  3. Centre National de le Recherche Scientifique, Laboratoire de Recherches Génétiques sur les Modèles Animaux, F-45071 Orléans, France, , , , , , FR

    Roland Motta

Authors
  1. Karin Opdecamp
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  2. Pascale Vanvooren
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  3. Michèle Rivière
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  4. Heinz Arnheiter
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  5. Roland Motta
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  6. Josiane Szpirer
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  7. Claude Szpirer
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Received: 5 March 1998 / Accepted: 4 April 1998

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Opdecamp, K., Vanvooren, P., Rivière, M. et al. The rat microphthalmia-associated transcription factor gene (Mitf) maps at 4q34-q41 and is mutated in the mib rats. 9, 617–621 (1998). https://doi.org/10.1007/s003359900832

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  • DOI: https://doi.org/10.1007/s003359900832

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