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Gene Review

Lmbr1  -  limb region 1

Mus musculus

Synonyms: 1110048D14Rik, AU017641, Limb region 1 protein
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Disease relevance of Lmbr1

  • Mutations in a conserved non-coding region in intron 5 of the Lmbr1 locus, which is 1 Mb away from the sonic hedgehog (Shh) coding sequence, are responsible for mouse and human preaxial polydactyly with mirror-image digit duplications [1].

High impact information on Lmbr1

  • Genetic analysis of Ssq reveals that the Lmbr1 gene is incidental to the phenotype and that the mutation directly interrupts a cis-acting regulator of Shh [2].
  • The loss of digits that we observed in mice with reduced Lmbr1 activity is in contrast to the gain of digits observed in Hx mice and human polydactyly patients [3].
  • This result suggests that Lmbr1 may underlie preaxial polydactyly in both mice and humans [3].
  • Furthermore, we created a loss-of-function mutation in the mouse Lmbr1 gene that causes digit number reduction (oligodactyly) on its own and in trans to a deletion chromosome [3].
  • Although the ozd phenotype is similar to ACHR, the open reading frame of Lmbr1 is normal in ozd [4].

Biological context of Lmbr1

  • We report on a sequence in intron 5 of the Lmbr1 gene, which resides approximately 1 Mb from the Shh coding region in the mouse genome and is highly conserved among teleost fishes and throughout the tetrapod lineage [5].
  • The chromosomal inversion includes the Shh gene and the regulatory locus, located approximately 1 Mb away, within the Lmbr1 gene [6].

Anatomical context of Lmbr1

  • In addition, overexpression of Lmbr1 throughout the developing limb mesoderm resulted in morphologically normal limbs [4].

Other interactions of Lmbr1

  • The open reading frame of both genes is intact in mutant mice, but the expression of the Lmbr1 gene is dramatically altered in developing limbs of Hx mutant mice [7].
  • Two novel genes, Lmbr1 and Lmbr2, are entirely within the candidate interval we defined genetically [7].

Analytical, diagnostic and therapeutic context of Lmbr1


  1. Elimination of a long-range cis-regulatory module causes complete loss of limb-specific Shh expression and truncation of the mouse limb. Sagai, T., Hosoya, M., Mizushina, Y., Tamura, M., Shiroishi, T. Development (2005) [Pubmed]
  2. Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly. Lettice, L.A., Horikoshi, T., Heaney, S.J., van Baren, M.J., van der Linde, H.C., Breedveld, G.J., Joosse, M., Akarsu, N., Oostra, B.A., Endo, N., Shibata, M., Suzuki, M., Takahashi, E., Shinka, T., Nakahori, Y., Ayusawa, D., Nakabayashi, K., Scherer, S.W., Heutink, P., Hill, R.E., Noji, S. Proc. Natl. Acad. Sci. U.S.A. (2002) [Pubmed]
  3. Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting Lmbr1. Clark, R.M., Marker, P.C., Roessler, E., Dutra, A., Schimenti, J.C., Muenke, M., Kingsley, D.M. Genetics (2001) [Pubmed]
  4. Isolation of the chicken Lmbr1 coding sequence and characterization of its role during chick limb development. Maas, S.A., Fallon, J.F. Dev. Dyn. (2004) [Pubmed]
  5. Phylogenetic conservation of a limb-specific, cis-acting regulator of Sonic hedgehog ( Shh). Sagai, T., Masuya, H., Tamura, M., Shimizu, K., Yada, Y., Wakana, S., Gondo, Y., Noda, T., Shiroishi, T. Mamm. Genome (2004) [Pubmed]
  6. Replicated anterior zeugopod (raz): a polydactylous mouse mutant with lowered Shh signaling in the limb bud. Krebs, O., Schreiner, C.M., Scott, W.J., Bell, S.M., Robbins, D.J., Goetz, J.A., Alt, H., Hawes, N., Wolf, E., Favor, J. Development (2003) [Pubmed]
  7. A novel candidate gene for mouse and human preaxial polydactyly with altered expression in limbs of Hemimelic extra-toes mutant mice. Clark, R.M., Marker, P.C., Kingsley, D.M. Genomics (2000) [Pubmed]
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