OMIA:001445-93934 : Feather colour, dilution, MLPH-related in Coturnix japonica
In other species: chicken
Categories: Pigmentation phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 609227 (trait) , 606526 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2012
Cross-species summary: Known as lavender feather colour
Species-specific name: Bleu; Blue
Species-specific symbol: lav
Molecular basis: Minivielle et al. (2002) showed that this locus is orthologous to the lavender locus in chickens, which is encoded by the MLPH gene. Bed'hom et al. (2012) reported the causal mutation as being a large deletion in the region of the quail MLPH gene.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MLPH||melanophilin||Coturnix japonica||7||NC_029522.1 (8730611..8694161)||MLPH||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|
|653||Feather colour, lavender||MLPH||deletion, gross (>20)||Naturally occurring variant||a large deletion in the region of the quail MLPH gene||2002||12011184|
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.
|2012||Bed'hom, B., Vaez, M., Coville, J.L., Gourichon, D., Chastel, O., Follett, S., Burke, T., Minvielle, F. :|
|The lavender plumage colour in Japanese quail is associated with a complex mutation in the region of MLPH that is related to differences in growth, feed consumption and body temperature. BMC Genomics 13:442, 2012. Pubmed reference: 22937744 . DOI: 10.1186/1471-2164-13-442.|
|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.|
|2003||Minvielle, F., Gourichon, D., Monvoisin, JL. :|
|Effects of two-locus combinations, using the roux, lavender, and beige mutations, on plumage color of Japanese quail. J Hered 94:517-22, 2003. Pubmed reference: 14691319 .|
|2002||Minvielle, F., Gourichon, D., Monvoisin, J.L. :|
|Testing homology of loci for two plumage colors, "lavender" and "recessive white," with chicken and Japanese quail hybrids Journal of Heredity 93:73-76, 2002. Pubmed reference: 12011184 .|
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