Evidence map›Paper›PMID 9434937›Full record

ArticleMammalian genome : official journal of the International Mammalian Genome Society1998

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.

T Sagai, T Koide, M Endo, K Tanoue, Y Kikkawa, H Yonekawa, S Ishiguro, M Tamai, Y Matsuda, S Wakana and 1 more

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In one paragraph

Article in Mammalian genome : official journal of the International Mammalian Genome Society, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
0.5field-weighted citation impact, top 38% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed, 6 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

  • Erratum issued
5 · Who and what money

Authors and funding

11 authors at 5 institutions in 1 country.

T SagaiMammalian Genetics Laboratory, National Institute of Genetics, Mishima, Japan.
T Koide
M Endo
K Tanoue
Y Kikkawa
H Yonekawa
S Ishiguro
M Tamai
Y Matsuda
S Wakana
T Shiroishi
Tokyo Metropolitan Institute of Medical Science · JPNational Institute of Genetics · JPTohoku University · JPCentral Institute for Experimental Animals · JPNagoya University · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

AllelesChromosome MappingAlbinism, OculocutaneousAnimalsBlood PlateletsChromosomes, Artificial, YeastDisease Models, AnimalFemaleHomozygoteHumansMaleMiceMice, Inbred C57BLMice, Mutant StrainsPhenotypePlatelet Storage Pool Deficiency

Identifiers

PMID9434937
OpenAlexW1988307749

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.