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Genetic and phenotypic studies of the dark‐like mutant mouse
Author(s) -
Cota Christina D.,
Liu Roy R.,
Sumberac Theresa M.,
Jung SeungWoo,
Vencato Daniela,
Millet Yoann H.,
Gunn Teresa M.
Publication year - 2008
Publication title -
genesis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.093
H-Index - 110
eISSN - 1526-968X
pISSN - 1526-954X
DOI - 10.1002/dvg.20432
Subject(s) - mutant , phenotype , biology , neurodegeneration , transgene , gene , microbiology and biotechnology , genetically modified mouse , genetics , medicine , disease
The dark‐like ( dal ) mutant mouse has a pleiotropic phenotype that includes dark dorsal hairs and reproductive degeneration. Their pigmentation phenotype is similar to Attractin ( Atrn ) mutants, which also develop vacuoles throughout the brain. In further characterizing the testicular degeneration of dal mutant males, we found that they had reduced serum testosterone and developed vacuoles in their testes. Genetic crosses placed dal upstream of the melanocortin 1 receptor ( Mc1r ) and downstream of agouti , although dal suppressed the effect of agouti on pigmentation but not body weight. Atrn mg‐3J and dal showed additive effects on pigmentation, testicular vacuolation, and spongiform neurodegeneration, but transgenic overexpression of Attractin‐like‐1 ( Atrnl1 ), which compensates for loss of ATRN, did not rescue dal mutant phenotypes. Our results suggest dal and Atrn function in the same pathway and that identification of the dal gene will provide insight into molecular mechanisms of vacuolation in multiple cell types. genesis 46:562–573, 2008. © 2008 Wiley‐Liss, Inc.