OMIA:001699-9031 : Inhibitor of dermal melanin in Gallus gallus (chicken) |
Categories: Pigmentation phene
Single-gene trait/disorder: yes
Mode of inheritance: Z-linked incomplete dominant
Disease-related: no
Key variant known: yes
Year key variant first reported: 2025
Cross-species summary: Also known as shank colour, which is not to be confused with Skin colour, yellow (OMIA:001449-9031), which is sometimes called yellow shank.
Species-specific name: ID shank colour
Species-specific symbol: Id
Mapping: Dorshorst et al. (2010) mapped this locus to "72.3 Mb on chromosome Z"
Molecular basis: Li et al. (2026) "discovered a candidate structural variant associated with the yellow shank phenotype. This variant is characterized by a 143 bp deletion coupled with a 2 bp insertion. CDKN2A was the only gene within the same topologically associating domain to exhibit differential expression. Functional validation via CRISPR/Cas9-edited cells demonstrated that this mutation regulates CDKN2A transcription and is responsible for the ID shank color in chickens."
Breeds:
Gushi, China (Chicken) (VBO_0006683),
Ogye (Chicken) (VBO_0017035),
Silkie (Chicken) (VBO_0000619),
Tibetan, China (Chicken) (VBO_0006759),
White Leghorn (Chicken) (VBO_0000646).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| CDKN2A | cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) | Gallus gallus | Z | NC_052572.1 (83339835..83329906) | CDKN2A | 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 | Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1871 | Shank colour, Inhibition of dermal melanin locus | CDKN2A | ID | delins, gross (>20) | regulatory | Naturally occurring variant | Not currently evaluated | GRCg6a | Z | chrZ:78942980_78943123delinsAA | 143 bp deletion coupled with a 2 bp insertion impacting exprssion of CDKN2A | 2026 | 41496629 |
* Variant pathogenicity for single gene diseases as evaluated by an expert panel of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization Standing Committee
Contact us
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2026). OMIA:001699-9031: 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 | Li, J., Wang, L., Yang, S., Zhou, X., Gou, Q., Cai, J., Yang, H., Wang, Q., Li, S. : |
| Chicken shank color determined by inhibition of dermal melanin (ID) is mediated by a structural variation regulating CDKN2A expression. Pigment Cell Melanoma Res 39:e70072, 2026. Pubmed reference: 41496629. DOI: 10.1111/pcmr.70072. | |
| 2024 | Perini, F., Cendron, F., Lasagna, E., Cassandro, M., Penasa, M. : |
| Genomic insights into shank and eggshell color in Italian local chickens. Poult Sci 103:S0032-5791(24)00256-6:103677, 2024. Pubmed reference: 38593544. DOI: 10.1016/j.psj.2024.103677. | |
| Tian, M, Hao, R, Fang, S, Wang, Y, Gu, X, Feng, C, Hu, X, Li, N : | |
| Genomic regions associated with the sex-linked inhibitor of dermal melanin in Silkie chicken Frontiers of Agricultural Science and Engineering 1:242-249, 2024. | |
| 2023 | Cha, J., Jin, D., Kim, J.H., Kim, S.C., Lim, J.A., Chai, H.H., Jung, S.A., Lee, J.H., Lee, S.H. : |
| Genome-wide association study revealed the genomic regions associated with skin pigmentation in an Ogye x White Leghorn F2 chicken population. Poult Sci 102:102720, 2023. Pubmed reference: 37327746. DOI: 10.1016/j.psj.2023.102720. | |
| 2017 | Xu, J., Lin, S., Gao, X., Nie, Q., Luo, Q., Zhang, X. : |
| Mapping of Id locus for dermal shank melanin in a Chinese indigenous chicken breed. J Genet 96:977-983, 2017. Pubmed reference: 29321357. DOI: 10.1007/s12041-017-0862-z. | |
| 2014 | Li, G., Li, D., Yang, N., Qu, L., Hou, Z., Zheng, J., Xu, G., Chen, S. : |
| A genome-wide association study identifies novel single nucleotide polymorphisms associated with dermal shank pigmentation in chickens. Poult Sci 93:2983-7, 2014. Pubmed reference: 25260525. DOI: 10.3382/ps.2014-04164. | |
| 2010 | Dorshorst, B., Okimoto, R., Ashwell, C. : |
| Genomic regions associated with dermal hyperpigmentation, polydactyly and other morphological traits in the Silkie chicken. J Hered 101:339-50, 2010. Pubmed reference: 20064842. DOI: 10.1093/jhered/esp120. | |
| 1988 | Bitgood, J.J. : |
| Linear relationship of the loci for barring, dermal melanin inhibitor, and recessive white skin on the chicken Z chromosome. Poult Sci 67:530-3, 1988. Pubmed reference: 3165529. DOI: 10.3382/ps.0670530. | |
| 1960 | Henderson, E.W. : |
| The inheritance of shank color in a jungle fowl-Silver Cornish cross Poultry Science 39:53-56, 1960. | |
| 1935 | Knox, CW. : |
| The inheritance of shank color in chickens. Genetics 20:529-44, 1935. Pubmed reference: 17246775. DOI: 10.1093/genetics/20.6.529. | |
| 1927 | Dunn, L.C., Jull, M.A. : |
| On the inheritance of some characters of the Silky fowl Journal of Genetics 19:27-63, 1927. | |
| 1911 | Bateson, W., Punnett, R.C. : |
| The inheritance of the peculiar pigmentation of the Silky fowl Journal of Genetics 1:185-203, 1911. | |
| 1902 | Bateson, W., Saunders, E.R. : |
| Experimental studies in the physiology of heredity. Part III. The facts of heredity in the light of Mendel's discovery Reports to the Evolution Committee of the Royal Society 1:125-160, 1902. |
Edit History
- Created by Frank Nicholas on 06 Jul 2012
- Changed by Frank Nicholas on 06 Jul 2012
- Changed by Imke Tammen2 on 09 Jan 2026