OMIA 000915-93934 : Feather colour, silver in Coturnix japonica

In other species: chicken

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Semi-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

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MITF microphthalmia-associated transcription factor Coturnix japonica 12 NC_029527.1 (12902806..12989046) MITF Homologene, Ensembl, NCBI gene

Variants

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Feather colour, silver MITF deletion, small (<=20) "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

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.
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.

Edit History


  • Created by Frank Nicholas on 04 Apr 2010
  • Changed by Frank Nicholas on 08 Sep 2011
  • Changed by Frank Nicholas on 11 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 21 Mar 2012
  • Changed by Frank Nicholas on 14 Jul 2017