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.
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.
Sagai
T
T
Mammalian Genetics Laboratory, National Institute of Genetics, Mishima, Japan.
Koide
T
T
Endo
M
M
Tanoue
K
K
Kikkawa
Y
Y
Yonekawa
H
H
Ishiguro
S
S
Tamai
M
M
Matsuda
Y
Y
Wakana
S
S
Shiroishi
T
T
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