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

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 606574 (trait) , 227240 (trait) , 606202 (gene)

Links to MONDO diseases:

Mendelian trait/disorder: yes

Mode of inheritance: Z-linked recessive

Considered a defect: 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".

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

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

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.

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 Inferred EVA rsID 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.

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