OMIA:000978-9031 : Orofaciodigital syndrome, C2CD3-related in Gallus gallus (chicken) |
Categories: Skeleton phene (incl. short stature & teeth) , Limbs / fins / digit / tail phene , Craniofacial phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 615944 (gene) , 615948 (trait)
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2014
Cross-species summary: renamed from Talpid-2 [31/10/2026]
Species-specific name: talpid 2
Species-specific symbol: ta2
Mapping: Chang et al. (2014) "determined that the talpid(2) phenotype was linked to a 1.4 Mb region on GGA1q that contained the gene encoding the ciliary protein C2CD3."
Molecular basis: Chang et al. (2014) "identified a 19 bp deletion in talpid(2) C2CD3 that produces a premature stop codon, and thus a truncated protein, as the likely causal allele for the [talpid(2)] phenotype.
Clinical features: "Homozygotes (-/-) display extreme preaxial polydactly, exposed viscera, cleft palate, parrot-like beak, and dwarfing with greatly reduced leg and wing proximal bones in addition to the duplication of the distal digit bones" (Robb et al., 2011)
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| C2CD3 | C2 domain containing 3 centriole elongation regulator | Gallus gallus | 1 | NC_052532.1 (194784152..194842933) | C2CD3 | 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 | Variant Type | Variant Effect | Source of Genetic Variant | AVCG Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1955 | talpid(2) | C2CD3 | deletion, small (<=20) | nonsense (stop-gain) | Naturally occurring variant | Not currently evaluated | GRCg7b | 1 | NC_052532.1:194824100_194824118del | XM_040659545.2:c.6641_6530del | XP_040515479.1:p.(S2214*) | 2014 | 25053433 |
* Variant pathogenicity for single-gene diseases as evaluated according to the Animal Variant Classification Guidelines (AVCG) by the Variant Pathogenicity Working Group of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization (AGTS) Standing Committee: P = pathogenic, LP = likely pathogenic, VUS = variant of unknown significance, LB = likely benign, B = benign. For more information (including details on the classification of each variant) see LINKS.
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2026). OMIA:000978-9031: 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.
| 2026 | Kantaputra, P., Guven, Y., Bunpiem, N., Cochran, K., Qiu, T., Brooks, E.C., Kangvonkit, P., Arayasantiwong, S., Ngamphiw, C., Tongsima, S., Sompoprungroat, P., Sengtae, N., Chintakanon, K., Ngaohiranpat, S., Leetanakul, C., Arold, S.T., Kalayci, T., Kawasaki, K., Ohazama, A., Brugmann, S.A., Tucker, A.S. : |
| C2CD3 links tooth patterning to evolutionary tooth loss in birds and dental anomalies across vertebrates. Proc Natl Acad Sci U S A 123:e2603057123, 2026. Pubmed reference: 42949964. DOI: 10.1073/pnas.2603057123. | |
| 2016 | Schock, E.N., Chang, C.F., Youngworth, I.A., Davey, M.G., Delany, M.E., Brugmann, S.A. : |
| Utilizing the chicken as an animal model for human craniofacial ciliopathies. Dev Biol 415:326-337, 2016. Pubmed reference: 26597494. DOI: 10.1016/j.ydbio.2015.10.024. | |
| 2014 | Chang, C.F., Schock, E.N., O'Hare, E.A., Dodgson, J., Cheng, H.H., Muir, W.M., Edelmann, R.E., Delany, M.E., Brugmann, S.A. : |
| The cellular and molecular etiology of the craniofacial defects in the avian ciliopathic mutant talpid2. Development 141:3003-12, 2014. Pubmed reference: 25053433. DOI: 10.1242/dev.105924. | |
| 2011 | Robb, EA., Gitter, CL., Cheng, HH., Delany, ME. : |
| Chromosomal mapping and candidate gene discovery of chicken developmental mutants and genome-wide variation analysis of MHC congenics. J Hered 102:141-56, 2011. Pubmed reference: 21273214. DOI: 10.1093/jhered/esq122. | |
| 2006 | Harris, MP., Hasso, SM., Ferguson, MW., Fallon, JF. : |
| The development of archosaurian first-generation teeth in a chicken mutant. Curr Biol 16:371-7, 2006. Pubmed reference: 16488870. DOI: 10.1016/j.cub.2005.12.047. | |
| 2005 | Vargas, AO., Fallon, JF. : |
| Birds have dinosaur wings: The molecular evidence. J Exp Zoolog B Mol Dev Evol 304:86-90, 2005. Pubmed reference: 15880773. DOI: 10.1002/jez.b.21042. | |
| 1999 | Caruccio, N.C., Martinez-Lopez, A., Harris, M., Dvorak, L., Bitgood, J., Simandl, B.K., Fallon, J.F. : |
| Constitutive activation of sonic hedgehog signaling in the chicken mutant talpid(2): Shh-independent outgrowth and polarizing activity. Dev Biol 212:137-49, 1999. Pubmed reference: 10419691. DOI: 10.1006/dbio.1999.9321. | |
| 1996 | Rodriguez, C., Kos, R., Macias, D., Abbott, U.K., Belmonte, J.C.I. : |
| Shh, hoxd, BMP-2, and FGF-4 gene expression during development of the polydactylous Talpid(2), Diplopodia(1), and Diplopodia(4) mutant chick limb buds Developmental Genetics 19:26-32, 1996. Pubmed reference: 8792606. DOI: 10.1002/(SICI)1520-6408(1996)19:1<26::AID-DVG3>3.0.CO;2-2. | |
| 1992 | Coelho, C.N.D., Upholt, W.B., Kosher, R.A. : |
| Role of the chicken homeobox-containing genes GHox-4.6 and GHox-8 in the specification of positional identities during the development of normal and polydactylous chick limb buds Development 115:629-37, 1992. Pubmed reference: 1358596. DOI: 10.1242/dev.115.2.629. | |
| 1991 | Dvorak, L., Fallon, J.F. : |
| Talpid2 mutant chick limb has anteroposterior polarity and altered patterns of programmed cell death. Anat Rec 231:251-60, 1991. Pubmed reference: 1746725. DOI: 10.1002/ar.1092310213. | |
| 1980 | Perle, M.A., Newman, S.A. : |
| Talpid2 mutant of the chicken with perturbed cartilage development has an altered precartilage-specific chromatin protein. Proc Natl Acad Sci U S A 77:4828-30, 1980. Pubmed reference: 6933534. | |
| 1974 | MacCabe, J.A., Abbott, U.K. : |
| Polarizing and maintenance activities in 2 polydactylous mutants of fowl: diplopodia-1 and talpid-2 Journal of Embryology and Experimental Morphology 31:735-746, 1974. | |
| 1964 | Goetinck, P.F., Abbott, U.K. : |
| Studies on limb morphogenesis. I. Experiments with the polydactylous mutant, talpid2 Journal of Experimental Zoology 155:161-170, 1964. Pubmed reference: 14131452. | |
| 1959 | Abbott, U.K., Taylor, L.W., Abplanalp, H. : |
| A second talpid-like mutation in the fowl Poultry Science 38:1185-1262, 1959. |
Edit History
- Created by Frank Nicholas on 26 Feb 2011
- Changed by Imke Tammen on 31 Oct 2026