Mice with mutations of Dock7 have generalized hypopigmentation and white-spotting but show normal neurological function

Amanda L. Blasius, Katharina Brandl, Karine Crozat, Yu Xia, Kevin Khovananth, Philippe Krebs, Nora G. Smart, Antonella Zampolli, Zaverio M. Ruggeri, Bruce A. Beutler

Research output: Contribution to journalArticle

30 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)2706-2711
Number of pages6
JournalProceedings of the National Academy of Sciences of the United States of America
Volume106
Issue number8
DOIs
StatePublished - Feb 24 2009

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Hypopigmentation
Metrorrhagia
Cytokinesis
Mutation
Color
Rho Guanine Nucleotide Exchange Factors
Proteins
Melanocytes
Axons
Tail
Phenotype
Skin
Brain

Keywords

  • Coat color
  • Guanine nucleotide exchange factor
  • Melanocyte
  • Misty
  • Rho GTPase

ASJC Scopus subject areas

  • General

Cite this

Mice with mutations of Dock7 have generalized hypopigmentation and white-spotting but show normal neurological function. / Blasius, Amanda L.; Brandl, Katharina; Crozat, Karine; Xia, Yu; Khovananth, Kevin; Krebs, Philippe; Smart, Nora G.; Zampolli, Antonella; Ruggeri, Zaverio M.; Beutler, Bruce A.

In: Proceedings of the National Academy of Sciences of the United States of America, Vol. 106, No. 8, 24.02.2009, p. 2706-2711.

Research output: Contribution to journalArticle

Blasius, Amanda L. ; Brandl, Katharina ; Crozat, Karine ; Xia, Yu ; Khovananth, Kevin ; Krebs, Philippe ; Smart, Nora G. ; Zampolli, Antonella ; Ruggeri, Zaverio M. ; Beutler, Bruce A. / Mice with mutations of Dock7 have generalized hypopigmentation and white-spotting but show normal neurological function. In: Proceedings of the National Academy of Sciences of the United States of America. 2009 ; Vol. 106, No. 8. pp. 2706-2711.
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