title: Genetic and phenotypic studies of the dark-like mutant mouse.
abstract: 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.
authors.affiliation: Department of Biomedical Sciences, Cornell University, Ithaca, New York 14853, USA.
authors.forename: Christina D
authors.initials: CD
authors.lastname: Cota
authors.forename: Roy R
authors.initials: RR
authors.lastname: Liu
authors.forename: Theresa M
authors.initials: TM
authors.lastname: Sumberac
authors.forename: SeungWoo
authors.initials: S
authors.lastname: Jung
authors.forename: Daniela
authors.initials: D
authors.lastname: Vencato
authors.forename: Yoann H
authors.initials: YH
authors.lastname: Millet
authors.forename: Teresa M
authors.initials: TM
authors.lastname: Gunn
mesh_terms: D054366:Agouti Signaling Protein / Q000235:genetics; D000818:Animals; D002135:Calcium-Binding Proteins; D066255:EGF Family of Proteins; D005260:Female; D006197:Hair / Q000378:metabolism*; D008297:Male; D051379:Mice; D008809:Mice, Inbred C3H; D008808:Mice, Inbred CBA; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D010858:Pigmentation / Q000235:genetics* / Q000502:physiology; D011506:Proteins / Q000235:genetics; D015398:Signal Transduction / Q000235:genetics
chemical_list: D054366:Agouti Signaling Protein; D002135:Calcium-Binding Proteins; D066255:EGF Family of Proteins; C494893:Egfl8 protein, mouse; D011506:Proteins; C515183:a protein, mouse