title: rim2 (recombination-induced mutation 2) is a new allele of pearl and a mouse model of human Hermansky-Pudlak syndrome (HPS): genetic and physical mapping.
abstract: A mouse mutation, rim2, is one of a series of spontaneous mutations that arose from the intra-MHC recombinants between Japanese wild mouse-derived wm7 and laboratory MHC haplotypes. This mutation is single recessive and characterized by diluted coat color and hypo-pigmentation of the eyes. We mapped the rim2 gene close to an old coat color mutation, pearl (pe), on Chromosome (Chr) 13 by the high-density linkage analysis. The pearl mutant is known to have abnormalities similar to Hermansky-Pudlak syndrome (HPS), a human hemorrhagic disorder, characterized by albinism and storage pool deficiency (SPD) of dense granules in platelets. A mating cross of C57BL10/Slc-rim2/rim2 and C57BL/6J-pe/pe showed no complementation of coat color. Additionally, characteristics similar to SPD were also observed in rim2. Thus, rim2 appeared to be a new allele of the pe locus and serves as a mouse model for human HPS. We have made a YAC contig covering the rim2/pe locus toward positional cloning of the causative gene.
authors.affiliation: Mammalian Genetics Laboratory, National Institute of Genetics, Mishima, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Sagai
authors.forename: T
authors.initials: T
authors.lastname: Koide
authors.forename: M
authors.initials: M
authors.lastname: Endo
authors.forename: K
authors.initials: K
authors.lastname: Tanoue
authors.forename: Y
authors.initials: Y
authors.lastname: Kikkawa
authors.forename: H
authors.initials: H
authors.lastname: Yonekawa
authors.forename: S
authors.initials: S
authors.lastname: Ishiguro
authors.forename: M
authors.initials: M
authors.lastname: Tamai
authors.forename: Y
authors.initials: Y
authors.lastname: Matsuda
authors.forename: S
authors.initials: S
authors.lastname: Wakana
authors.forename: T
authors.initials: T
authors.lastname: Shiroishi
mesh_terms: D016115:Albinism, Oculocutaneous / Q000235:genetics*; D000483:Alleles; D000818:Animals; D001792:Blood Platelets / Q000502:physiology; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D004195:Disease Models, Animal; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D008817:Mice, Mutant Strains; D010641:Phenotype; D010981:Platelet Storage Pool Deficiency / Q000235:genetics*; D015183:Restriction Mapping