PMID: 9434937Jan 22, 1998Paper

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

Mammalian Genome : Official Journal of the International Mammalian Genome Society
T SagaiT Shiroishi

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.

References

Jan 1, 1976·Proceedings of the Society for Experimental Biology and Medicine·J M Holland
Nov 1, 1967·The Journal of Heredity·M A LutznerH W Jordan
Jan 1, 1982·The Journal of Heredity·J B Whitney, M L Lamoreux
Apr 10, 1980·Nature·J C RoderA S Fauci
Mar 4, 1983·Science·G W BalkemaL H Pinto
Nov 25, 1982·Nature·T ShiroishiK Moriwaki
Feb 1, 1982·The Journal of Investigative Dermatology·E Frenk, F Lattion
Jul 1, 1995·Genes & Development·H MasuyaT Shiroishi
Jan 1, 1995·Mammalian Genome : Official Journal of the International Mammalian Genome Society·E P O'BrienR T Swank
Jun 1, 1994·Mammalian Genome : Official Journal of the International Mammalian Genome Society·E P O'BrienR T Swank
Jun 1, 1996·Genome Research·A B SeymourM B Gorin
Nov 1, 1996·Nature Genetics·M Ramsay

❮ Previous
Next ❯

Citations

Nov 7, 2008·International Journal of Dermatology·Virendra N Sehgal, Govind Srivastava
Mar 24, 1999·Genomics·H SatoT Shiroishi

❮ Previous
Next ❯

Related Concepts

Related Feeds

Artificial Chromosomes

Artificial chromosomes are genetically engineered chromosomes derived from the DNA of a species. Discover the latest research on artificial chromosomes here.