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Gene Review

Rw  -  rump white, inversion

Mus musculus

Synonyms: In(5)6H-d, In(5)6H-p, rump-white
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Disease relevance of Rw

  • This region corresponds comparatively to a region on mouse chromosome 5 which houses several coat color mutations, among which homology is possible with Hardy-Zuckerman 4 feline sarcoma viral oncogene homologue (Kit), patch (Ph), and rump white (Rw) [1].

High impact information on Rw

  • 5. The Rw mutation is associated with a chromosomal inversion spanning 30 cM of the proximal portion of mouse chromosome 5 [2].
  • The mouse rump white (Rw) mutation causes a pigmentation defect in heterozygotes and embryonic lethality in homozygotes [2].
  • Structural analysis of chromosomal rearrangements associated with the developmental mutations Ph, W19H, and Rw on mouse chromosome 5 [3].
  • We are studying the chromosomal structure of three developmental mutations, dominant spotting (W), patch (Ph), and rump white (Rw) on mouse chromosome 5 [3].
  • This enabled us to show that Rw homozygote embryos die around 9.5 days of gestation [4].

Biological context of Rw

  • Taken together, both the genetic and physical mapping data establish that the Rw mutation is associated with an inversion involving loci in the proximal region of Chromosome 5 [5].
  • The structural analysis of chromosomal rearrangements associated with W19H, Ph, and Rw combined with the high-resolution physical mapping points the way toward the definition of these mutations in molecular terms and isolation of homologous genes on human chromosome 4 [3].
  • Using one such marker, we were able to genotype the offspring of Rw/+ intercrosses [4].
  • Three mutations in the mouse, white spotting (W), rump white (Rw), and patch (Ph), are described as a "gene triplet" on the basis of their close genetic linkage and similar mutant phenotypes [4].
  • In the mouse Rw colour pattern is the result of an inversion involving the proto-oncogene c-kit (KIT) [6].

Other interactions of Rw

  • Gene order and recombination frequencies are estimated as Pep-7, 3.5 +/- 2.0 Rw 8.8 +/- 2.2 go 20.0 +/- 4.6 bf [7].
  • The YAC clones and corresponding YAC end probes presented here provide an important resource for the molecular analysis of a cluster of developmental mutations, namely dominant white spotting (W), patch (Ph), recessive spotting (rs), and rump-white (Rw), associated with this chromosomal region [8].

Analytical, diagnostic and therapeutic context of Rw

  • To position the mutations within the Rw region and to guide allelism tests, we performed complementation analyses with a set of new and existing chromosomal deletions, as well as standard recombinational mapping on a subset of the mutations [9].


  1. The "spotted" locus maps to bovine chromosome 6 in a Hereford-Cross population. Grosz, M.D., MacNeil, M.D. J. Hered. (1999) [Pubmed]
  2. Rump white inversion in the mouse disrupts dipeptidyl aminopeptidase-like protein 6 and causes dysregulation of Kit expression. Hough, R.B., Lengeling, A., Bedian, V., Lo, C., Bućan, M. Proc. Natl. Acad. Sci. U.S.A. (1998) [Pubmed]
  3. Structural analysis of chromosomal rearrangements associated with the developmental mutations Ph, W19H, and Rw on mouse chromosome 5. Nagle, D.L., Martin-DeLeon, P., Hough, R.B., Bućan, M. Proc. Natl. Acad. Sci. U.S.A. (1994) [Pubmed]
  4. Lethality of Rw/Rw mouse embryos during early postimplantation development. Bućan, M., Nagle, D.L., Hough, R.B., Chapman, V.M., Lo, C.W. Dev. Biol. (1995) [Pubmed]
  5. Mouse rump-white mutation associated with an inversion of chromosome 5. Stephenson, D.A., Lee, K.H., Nagle, D.L., Yen, C.H., Morrow, A., Miller, D., Chapman, V.M., Bućan, M. Mamm. Genome (1994) [Pubmed]
  6. Linked markers exclude KIT as the gene responsible for appaloosa coat colour spotting patterns in horses. Terry, R.R., Bailey, E., Bernoco, D., Cothran, E.G. Anim. Genet. (2001) [Pubmed]
  7. Linkage relationships of peptidase-7, Pep-7, in the mouse. Peters, J., Povey, S., Jeremiah, S., De Giorgi, L. Biochem. Genet. (1983) [Pubmed]
  8. A 1.8-Mb YAC contig spanning three members of the receptor tyrosine kinase gene family (Pdgfra, Kit, and Flk1) on mouse chromosome 5. Brunkow, M.E., Nagle, D.L., Bernstein, A., Bucan, M. Genomics (1995) [Pubmed]
  9. Random mutagenesis of proximal mouse chromosome 5 uncovers predominantly embryonic lethal mutations. Wilson, L., Ching, Y.H., Farias, M., Hartford, S.A., Howell, G., Shao, H., Bucan, M., Schimenti, J.C. Genome Res. (2005) [Pubmed]
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