OMIA:000915-93934 : Feather colour, silver in Coturnix japonica
In other species: chicken
Categories: Pigmentation phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 606202 (gene) , 227240 (trait) , 606574 (trait) , 156845 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal incomplete dominant
Considered a defect: no
Key variant known: yes
Year key variant first reported: 1998
Species-specific symbol: B
Molecular basis: Mochii et al. (1998): "a two-base deletion resulting in premature termination of the polypeptide in the region following the zipper region"
Minvielle et al. (2010) confirmed this variant
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MITF||microphthalmia-associated transcription factor||Coturnix japonica||12||NC_029527.1 (12902808..12989046)||MITF||Homologene, Ensembl , NCBI gene|
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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||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|503||Feather colour, silver||MITF||deletion, small (<=20)||Naturally occurring variant||"a two-base deletion resulting in premature termination of the polypeptide in the region following the zipper region" = 2 bp deletion in exon 11||1998||9576828|
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.
|2010||Minvielle, F., Bed'hom, B., Coville, JL., Ito, S., Inoue-Murayama, M., Gourichon, D. :|
|The "silver" Japanese quail and the MITF gene: causal mutation, associated traits and homology with the "blue" chicken plumage. BMC Genet 11:15, 2010. Pubmed reference: 20184729 . DOI: 10.1186/1471-2156-11-15.|
|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.|
|2002||Araki, M., Takano, T., Uemonsa, T., Nakane, Y., Tsudzuki, M., Kaneko, T. :|
|Epithelia-mesenchyme interaction plays an essential role in trans differentiation of retinal pigment epithelium of silver mutant quail: Localization of FGF and related molecules and aberrant migration pattern of neural crest cells during eye rudiment formation Developmental Biology 244:358-371, 2002. Pubmed reference: 11944943 . DOI: 10.1006/dbio.2002.0591.|
|2001||Kawaguchi, N., Ono, T., Mochii, M., Noda, M. :|
|Spontaneous mutation in Mitf gene causes osteopetrosis in silver homozygote quail Developmental Dynamics 220:133-140, 2001. Pubmed reference: 11169846 . DOI: 10.1002/1097-0177(2000)9999:9999<::AID-DVDY1095>3.0.CO;2-7.|
|1999||Tsukamoto, Y., Taira, E., Nakane, Y., Tsudzuki, M., Kohama, K., Amin, H., Miki, N., Sasaki, F. :|
|Expression of gicerin, a cell adhesion molecule, in the abnormal retina in silver plumage color mutation of Japanese quail (Coturnix japonica) Neuroscience Letters 266:53-56, 1999. Pubmed reference: 10336182 .|
|1998||Araki, M., Yamao, M., Tsudzuki, M. :|
|Early embryonic interaction of retinal pigment epithelium and mesenchymal tissue induces conversion of pigment epithelium to neural retinal fate in the silver mutation of the japanese quail Development Growth & Differentiation 40:167-176, 1998.|
|Mochii, M., Ono, T., Matsubara, Y., Eguchi, G. :|
|Spontaneous transdifferentiation of quail pigmented epithelial cell is accompanied by a mutation in the Mitf gene. Dev Biol 196:145-59, 1998. Pubmed reference: 9576828 . DOI: 10.1006/dbio.1998.8864.|
|1997||Shibuya, K., Nunoya, T., Tajima, M., Mizutani, M. :|
|Scleral ectasia associated with hereditary retinal dysplasia in a mutant strain of Japanese quail (Coturnix coturnix japonica) Avian Pathology 26:53-61, 1997.|
|1993||Fuji, J., Wakasugi, N. :|
|Transdifferentiation from Retinal Pigment Epithelium (RPE) into Neural Retina Due to Silver Plumage Mutant Gene in Japanese Quail Development Growth & Differentiation 35:487-493, 1993.|
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