http://purl.uniprot.org/citations/9434937 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/9434937 | http://www.w3.org/2000/01/rdf-schema#comment | "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."xsd:string |
http://purl.uniprot.org/citations/9434937 | http://purl.org/dc/terms/identifier | "doi:10.1007/s003359900670"xsd:string |
http://purl.uniprot.org/citations/9434937 | http://purl.uniprot.org/core/author | "Endo M."xsd:string |
http://purl.uniprot.org/citations/9434937 | http://purl.uniprot.org/core/author | "Koide T."xsd:string |
http://purl.uniprot.org/citations/9434937 | http://purl.uniprot.org/core/author | "Matsuda Y."xsd:string |
http://purl.uniprot.org/citations/9434937 | http://purl.uniprot.org/core/author | "Tanoue K."xsd:string |
http://purl.uniprot.org/citations/9434937 | http://purl.uniprot.org/core/author | "Ishiguro S."xsd:string |
http://purl.uniprot.org/citations/9434937 | http://purl.uniprot.org/core/author | "Shiroishi T."xsd:string |
http://purl.uniprot.org/citations/9434937 | http://purl.uniprot.org/core/author | "Wakana S."xsd:string |
http://purl.uniprot.org/citations/9434937 | http://purl.uniprot.org/core/author | "Kikkawa Y."xsd:string |
http://purl.uniprot.org/citations/9434937 | http://purl.uniprot.org/core/author | "Yonekawa H."xsd:string |
http://purl.uniprot.org/citations/9434937 | http://purl.uniprot.org/core/author | "Tamai M."xsd:string |
http://purl.uniprot.org/citations/9434937 | http://purl.uniprot.org/core/author | "Sagai T."xsd:string |
http://purl.uniprot.org/citations/9434937 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
http://purl.uniprot.org/citations/9434937 | http://purl.uniprot.org/core/name | "Mamm Genome"xsd:string |
http://purl.uniprot.org/citations/9434937 | http://purl.uniprot.org/core/pages | "2-7"xsd:string |
http://purl.uniprot.org/citations/9434937 | http://purl.uniprot.org/core/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."xsd:string |
http://purl.uniprot.org/citations/9434937 | http://purl.uniprot.org/core/volume | "9"xsd:string |
http://purl.uniprot.org/citations/9434937 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/9434937 |
http://purl.uniprot.org/citations/9434937 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/9434937 |
http://purl.uniprot.org/uniprot/#_A0A286YDU0-mappedCitation-9434937 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/9434937 |
http://purl.uniprot.org/uniprot/#_A0A338P6V5-mappedCitation-9434937 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/9434937 |
http://purl.uniprot.org/uniprot/#_E9PYG6-mappedCitation-9434937 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/9434937 |
http://purl.uniprot.org/uniprot/#_Q3V090-mappedCitation-9434937 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/9434937 |