OMIA:000370-93934 : Feather colour, SLC45A2-related in Coturnix japonica (Japanese quail) |
In other species: chicken , turkey , Rose-ringed parakeet , Plum-headed parakeet , Alexandrine parakeet
Categories: Pigmentation phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 606574 (trait) , 227240 (trait) , 606202 (gene)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: yes
Mode of inheritance: Z-linked recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2007
Cross-species summary: Renamed from 'Feather colour, albinism, sex-linked, imperfect' to 'Feather colour, SLC45A2-related' [14/11/2023]
Species-specific name: cinnamon, sex-linked albinism
Species-specific description: This locus is orthologous to the Silver locus in chickens (OMIA:000370-9031) (Silversides and Merat, 1991)
Inheritance: As summarised by Gunnarsson et al. (2007), the allelic series at this locus is (in dominance hierarchy) is: AL*N (wild type) AL*C (cinnamon) = AL*D (dark-eyed dilute) AL*A (sex-linked albinism).
Molecular basis: Gunnarsson et al. (2007) showed that the cinnamon allele (AL*C) corresponds to a missense mutation: c.287C>A; p.Ala72Asp in the SLC45A2 gene. Gunnarsson et al. (2007) showed that the sex-linked albino allele (AL*A) corresponds to a splice-site mutation in the SLC45A2 gene: "a G → T transversion at the splice acceptor site just preceding exon 4".
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| SLC45A2 | solute carrier family 45 member 2 | Coturnix japonica | Z | NC_029547.1 (9500745..9487489) | SLC45A2 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 386 | Feather colour, albinism, sex-linked, imperfect | SLC45A2 | splicing | Naturally occurring variant | a splice-site mutation in the SLC45A2 gene: "a G>T transversion at the splice acceptor site just preceding exon 4" | 2007 | 17151254 | |||||||||
| 259 | Feather colour, cinnamon | SLC45A2 | missense | Naturally occurring variant | c.287C>A | p.(A72D) | 2007 | 17151254 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:000370-93934: 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.
| 2024 | Huo, L., Zhang, X., Pang, Y., Qi, Y., Ren, S., Wu, F., Shang, Y., Xi, J. : |
| Expression and mutation of SLC45A2 affects iris color in quail. J Poult Sci 61:2024015, 2024. Pubmed reference: 38818526. DOI: 10.2141/jpsa.2024015. | |
| 2009 | Minvielle, F., Cecchi, T., Passamonti, P., Gourichon, D., Renieri, C. : |
| Plumage colour mutations and melanins in the feathers of the Japanese quail: a first comparison. Anim Genet 40:971-4, 2009. Pubmed reference: 19496774. DOI: 10.1111/j.1365-2052.2009.01929.x. | |
| 2007 | Gunnarsson, U., Hellström, A.R., Tixier-Boichard, M., Minvielle, F., Bed'hom, B., Ito, S., Jensen, P., Rattink, A., Vereijken, A., Andersson, L. : |
| Mutations in SLC45A2 cause plumage color variation in chicken and Japanese quail. Genetics 175:867-77, 2007. Pubmed reference: 17151254. DOI: 10.1534/genetics.106.063107. | |
| 2001 | Minvielle, F., Ito, S., Inoue-Murayama, M., Mizutani, M., Wakasugi, N. : |
| Genetic analyses of plumage color mutations on the Z chromosome of Japanese quail. J Hered 91:499-501, 2001. Pubmed reference: 11218091. | |
| 1991 | Silversides, F.G., Mérat, P. : |
| Homology of the s+ locus in the chicken with Al+ in the Japanese quail. Journal of Heredity 82:245-247, 1991. | |
| 1987 | Takatsuji, K., Nakamura, A. : |
| Abnormality in the optic nerve of albino mutant quails. Invest Ophthalmol Vis Sci 28:384-90, 1987. Pubmed reference: 8591922. | |
| Weidner, C., Repérant, J., Kirpitchnikova, E., Miceli, D., Desroches, A., Rio, J.P. : | |
| Time course of degeneration of the visual system induced by spontaneous glaucoma in the albino quail (Coturnix coturnix japonica). Brain Res 419:357-63, 1987. Pubmed reference: 3676739. | |
| Yamamoto, H., Ito, K., Ishiguro, S., Takeuchi, T. : | |
| Gene controlling a differentiation step in the quail melanocyte Developmental Genetics 8:179-185, 1987. Pubmed reference: 3139348. DOI: 10.1002/dvg.1020080306. | |
| 1986 | Takatsuji, K., Sato, Y., Iizuka, S., Nakatani, H., Nakamura, A. : |
| Animal model of closed angle glaucoma in albino mutant quails. Invest Ophthalmol Vis Sci 27:396-400, 1986. Pubmed reference: 3949468. | |
| 1985 | Takatsuji, K., Iizuka, S., Nakatani, H., Nakamura, A. : |
| Morphology of the cataract in albino mutant quails (Coturnix coturnix japonica). Exp Eye Res 40:567-73, 1985. Pubmed reference: 4007071. | |
| 1984 | Takatsuji, K., Ito, H., Watanabe, M., Ikushima, M., Nakamura, A. : |
| Histopathological changes of the retina and optic nerve in the albino mutant quail (Coturnix coturnix japonica). J Comp Pathol 94:387-404, 1984. Pubmed reference: 6470227. | |
| 1979 | Konishi, H., Homma, K. : |
| Properties of electroretinogram in albino and wild-type Japanese quail with special regard to the C-wave. Nihon Juigaku Zasshi 41:647-54, 1979. Pubmed reference: 522340. | |
| 1966 | Sittman, K., Wilson, W.O., McFarland, L.Z. : |
| Buff and albino Japanese quail. Description, inheritance and fitness traits Journal of Heredity 57:119-124, 1966. | |
| 1964 | Lauber, J.K. : |
| Sex-linked albinism in the Japanese quail. Science 146:948-50, 1964. Pubmed reference: 14199723. | |
| 1957 | Wint, G. : |
| One in seventy thousand Oklahoma Wildlife Oct 1957:11, 1957. |
Edit History
- Created by Frank Nicholas on 25 Oct 2007
- Changed by Frank Nicholas on 08 Sep 2011
- Changed by Frank Nicholas on 12 Oct 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 21 Mar 2012
- Changed by Frank Nicholas on 05 Aug 2013
- Changed by Frank Nicholas on 27 Jan 2017
- Changed by Frank Nicholas on 02 Feb 2017
- Changed by Imke Tammen2 on 14 Nov 2023
- Changed by Imke Tammen2 on 09 Feb 2024