OMIA 001612-9031 : Oligozeugodactyly in Gallus gallus

Mendelian trait/disorder: yes

Considered a defect: 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_006089.5 (8580724..8520589) LMBR1 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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

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