Mouse silver mutation is caused by a single base insertion in the putative cytoplasmic domain of Pmel 17.

Ítems similars

• A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism.
  per: Chintamaneni, C D, et al.
  Publicat: (1991)
• A mutation within the transmembrane domain of melanosomal protein Silver (Pmel17) changes lumenal fragment interactions
  per: Kuliawat, Regina, et al.
  Publicat: (2009)
• A missense mutation in PMEL17 is associated with the Silver coat color in the horse
  per: Brunberg, Emma, et al.
  Publicat: (2006)
• A melanocyte-specific gene, Pmel 17, maps near the silver coat color locus on mouse chromosome 10 and is in a syntenic region on human chromosome 12.
  per: Kwon, B S, et al.
  Publicat: (1991)
• Dual Loss of ER Export and Endocytic Signals with Altered Melanosome Morphology in the silver Mutation of Pmel17
  per: Theos, Alexander C., et al.
  Publicat: (2006)