title: Mice with mutations of Dock7 have generalized hypopigmentation and white-spotting but show normal neurological function.
abstract: The classical recessive coat color mutation misty (m) arose spontaneously on the DBA/J background and causes generalized hypopigmentation and localized white-spotting in mice, with a lack of pigment on the belly, tail tip, and paws. Here we describe moonlight (mnlt), a second hypopigmentation and white-spotting mutation identified on the C57BL/6J background, which yields a phenotypic copy of m/m coat color traits. We demonstrate that the 2 mutations are allelic. m/m and mnlt/mnlt phenotypes both result from mutations that truncate the dedicator of cytokinesis 7 protein (DOCK7), a widely expressed Rho family guanine nucleotide exchange factor. Although Dock7 is transcribed at high levels in the developing brain and has been implicated in both axon development and myelination by in vitro studies, we find no requirement for DOCK7 in neurobehavioral function in vivo. However, DOCK7 has non-redundant role(s) related to the distribution and function of dermal and follicular melanocytes.
authors.affiliation: Departments of Genetics and Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA.
authors.forename: Amanda L
authors.initials: AL
authors.lastname: Blasius
authors.forename: Katharina
authors.initials: K
authors.lastname: Brandl
authors.forename: Karine
authors.initials: K
authors.lastname: Crozat
authors.forename: Yu
authors.initials: Y
authors.lastname: Xia
authors.forename: Kevin
authors.initials: K
authors.lastname: Khovananth
authors.forename: Philippe
authors.initials: P
authors.lastname: Krebs
authors.forename: Nora G
authors.initials: NG
authors.lastname: Smart
authors.forename: Antonella
authors.initials: A
authors.lastname: Zampolli
authors.forename: Zaverio M
authors.initials: ZM
authors.lastname: Ruggeri
authors.forename: Bruce A
authors.initials: BA
authors.lastname: Beutler
mesh_terms: D000818:Animals; D001483:Base Sequence; D001522:Behavior, Animal; D005260:Female; D020690:GTPase-Activating Proteins; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D008297:Male; D051379:Mice; D008809:Mice, Inbred C3H; D008810:Mice, Inbred C57BL; D008811:Mice, Inbred DBA; D008969:Molecular Sequence Data; D009154:Mutation; D009424:Nervous System Physiological Phenomena; D010859:Pigmentation Disorders / Q000235:genetics*
chemical_list: C539620:Dock7 protein, mouse; D020690:GTPase-Activating Proteins; D020662:Guanine Nucleotide Exchange Factors