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Cota, Christina D.; Liu, Roy R.; Sumberac, Theresa M.; Jung, SeungWoo; Vencato, Daniela; Millet, Yoann H.; Gunn, Teresa M.

Genetic and phenotypic studies of the dark‐like mutant mouse

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  • Medientyp: E-Artikel
  • Titel: Genetic and phenotypic studies of the dark‐like mutant mouse
  • Beteiligte: Cota, Christina D.; Liu, Roy R.; Sumberac, Theresa M.; Jung, SeungWoo; Vencato, Daniela; Millet, Yoann H.; Gunn, Teresa M.
  • Erschienen: Wiley, 2008
  • Erschienen in: genesis
  • Sprache: Englisch
  • DOI: 10.1002/dvg.20432
  • ISSN: 1526-954X; 1526-968X
  • Schlagwörter: Cell Biology ; Endocrinology ; Genetics
  • Entstehung:
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  • Beschreibung: <jats:title>Abstract</jats:title><jats:p>The <jats:italic>dark‐like</jats:italic> (<jats:italic>dal</jats:italic>) mutant mouse has a pleiotropic phenotype that includes dark dorsal hairs and reproductive degeneration. Their pigmentation phenotype is similar to <jats:italic>Attractin</jats:italic> (<jats:italic>Atrn</jats:italic>) mutants, which also develop vacuoles throughout the brain. In further characterizing the testicular degeneration of <jats:italic>dal</jats:italic> mutant males, we found that they had reduced serum testosterone and developed vacuoles in their testes. Genetic crosses placed <jats:italic>dal</jats:italic> upstream of the <jats:italic>melanocortin 1 receptor</jats:italic> (<jats:italic>Mc1r</jats:italic>) and downstream of <jats:italic>agouti</jats:italic>, although <jats:italic>dal</jats:italic> suppressed the effect of agouti on pigmentation but not body weight. <jats:italic>Atrn</jats:italic><jats:sup><jats:italic>mg‐3J</jats:italic></jats:sup> and <jats:italic>dal</jats:italic> showed additive effects on pigmentation, testicular vacuolation, and spongiform neurodegeneration, but transgenic overexpression of <jats:italic>Attractin‐like‐1</jats:italic> (<jats:italic>Atrnl1</jats:italic>), which compensates for loss of ATRN, did not rescue <jats:italic>dal</jats:italic> mutant phenotypes. Our results suggest <jats:italic>dal</jats:italic> and <jats:italic>Atrn</jats:italic> function in the same pathway and that identification of the <jats:italic>dal</jats:italic> gene will provide insight into molecular mechanisms of vacuolation in multiple cell types. genesis 46:562–573, 2008. © 2008 Wiley‐Liss, Inc.</jats:p>