OMIA:001612-9031 : Oligozeugodactyly in Gallus gallus (chicken) |
Categories: Limbs / fins / digit / tail phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 605522 (gene) , 200500 (trait)
Mendelian trait/disorder: yes
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2011
Species-specific symbol: ozd
History: This limb mutant was first reported by Ros et al. (2003).
Molecular basis: Maas et al. (2011) reported that "the spontaneously occurring chicken ozd mutant contains a large deletion in LMBR1-intron 5, eliminating most of the limb-specific enhancer conserved sequence."
Clinical features: "The limbs of this mutant have a longitudinal postaxial defect, lacking the posterior element in the zeugopod (ulna/fibula) and all digits except digit 1 in the leg." (Ros et al., 2003)
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| LMBR1 | limb development membrane protein 1 | Gallus gallus | 2 | NC_052533.1 (8501553..8435836) | LMBR1 | Homologene, Ensembl , NCBI gene |
Variants
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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.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 663 | Silkie (Chicken) | Oligozeugodactyly | LMBR1 | deletion, gross (>20) | Naturally occurring variant | 2 | "a large deletion in LMBR1-intron 5, eliminating most of the limb-specific enhancer conserved sequence." | 2011 | 21509895 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2012). OMIA:001612-9031: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
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. |
Edit History
- 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