OMIA 001612-9031 : Oligozeugodactyly in Gallus gallus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|LMBR1||limb development membrane protein 1||Gallus gallus||-||no genomic information (-..-)||LMBR1||Homologene, Ensembl, NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Year Published||PubMed ID(s)||Acknowledgements|
|Silky/Silkie||Oligozeugodactyly||LMBR1||deletion, gross (>20)||"a large deletion in LMBR1-intron 5, eliminating most of the limb-specific enhancer conserved sequence."||2011||21509895|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2011||Maas, S.A., Suzuki, T., Fallon, J.F. :|
|Identification of spontaneous mutations within the long-range limb-specific Sonic hedgehog enhancer (ZRS) that alter Sonic hedgehog expression in the chicken limb mutants oligozeugodactyly and silkie breed. Dev Dyn 240:1212-22, 2011. Pubmed reference: 21509895. DOI: 10.1002/dvdy.22634.|
|2006||Nissim, S., Hasso, S.M., Fallon, J.F., Tabin, C.J. :|
|Regulation of Gremlin expression in the posterior limb bud. Dev Biol 299:12-21, 2006. Pubmed reference: 16989805. DOI: 10.1016/j.ydbio.2006.05.026.|
|2004||Maas, S.A., Fallon, J.F. :|
|Isolation of the chicken Lmbr1 coding sequence and characterization of its role during chick limb development. Dev Dyn 229:520-8, 2004. Pubmed reference: 14991708. DOI: 10.1002/dvdy.10502.|
|2003||Fernandez-Teran, M., Piedra, M.E., Rodriguez-Rey, J.C., Talamillo, A., Ros, M.A. :|
|Expression and regulation of eHAND during limb development. Dev Dyn 226:690-701, 2003. Pubmed reference: 12666206. DOI: 10.1002/dvdy.10271.|
|Ros, M.A., Dahn, R.D., Fernandez-Teran, M., Rashka, K., Caruccio, N.C., Hasso, S.M., Bitgood, J.J., Lancman, J.J., Fallon, J.F. :|
|The chick oligozeugodactyly (ozd) mutant lacks sonic hedgehog function in the limb. Development 130:527-37, 2003. Pubmed reference: 12490559.|
- Created by Frank Nicholas on 30 Sep 2011
- Changed by Frank Nicholas on 30 Sep 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 04 Jan 2012