OMIA:001445-93934 : Feather colour, dilution, MLPH-related in Coturnix japonica (Japanese quail) |
In other species: chicken , common canary
Categories: Pigmentation phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 609227 (trait) , 606526 (gene)
Links to relevant human diseases in MONDO:
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: 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.
Lee et al. (2019) used CRISPR/Cas9 technology to create a targeted mutation in MLPH: "MLPH homozygous mutant quail exhibited gray plumage, whereas MLPH heterozygous mutants and wild-type quail exhibited dark brown plumage." This study involves genetically modified organisms (GMO).
Lee et al. (2023) "developed a strategy to investigate the gene function in 1-generation by inducing regional genome editing around the injection sites with CRISPR/Cas9 adenovirus. The adenoviral CRISPR/Cas9 vector targeting the melanophilin (Mlph) gene, regulating feather pigmentation, was injected into 2 different regions of embryos ... . In the posthatch quail, gray feathers were shown on their upper back and primary wing feathers, corresponding to the injection sites at embryos." This study involves genetically modified organisms (GMO).
Kim et al. (2024) used site-directed mutagenesis to create multiple Mlph knockout or mutant quail: "All quail lines had diluted feather pigmentation with impaired dendritogenesis and melanosome transport in melanocytes." This study involves genetically modified organisms (GMO).
Genetic engineering:
Yes - in addition to the occurrence of natural variants, variants have been created artificially, e.g. by genetic engineering or gene editing
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 |
|---|---|---|---|---|---|---|
| MLPH | melanophilin | Coturnix japonica | 7 | NC_029522.1 (8730611..8694161) | MLPH | 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 | Variant Type | Variant Effect | Source of Genetic Variant | Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 653 | Feather colour, lavender | MLPH | deletion, gross (>20) | Naturally occurring variant | Not currently ISAG evaluated | a large deletion in the region of the quail MLPH gene | 2002 | 12011184 |
* Variant pathogenicity for single gene diseases as evaluated by an expert panel of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization Standing Committee
Contact us
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2025). OMIA:001445-93934: 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 | Kim, D.H., Lee, J., Suh, Y., Chen, P.R., Lee, K. : |
| Up-regulation of Melanophilin (MLPH) gene during avian adipogenesis and decreased fat pad weights with adipocyte hypotrophy in MLPH knockout quail. Poult Sci 104:S0032-5791(24)01298-7:104720, 2024. Pubmed reference: 39729733. DOI: 10.1016/j.psj.2024.104720. | |
| Kim, D.H., Lee, J., Ko, J.K., Lee, K. : | |
| Melanophilin regulates dendritogenesis in melanocytes for feather pigmentation. Commun Biol 7:592, 2024. Pubmed reference: 38760591. DOI: 10.1038/s42003-024-06284-5. | |
| 2023 | Lee, J., Kim, D.H., Lee, K. : |
| Research Note: Injection of adenoviral CRISPR/Cas9 system targeting melanophilin gene into different sites of embryos induced regional feather color changes in posthatch quail. Poult Sci 102:103087, 2023. Pubmed reference: 37741117. DOI: 10.1016/j.psj.2023.103087. | |
| Yuan, Z., Zhang, X., Pang, Y., Qi, Y., Wang, Q., Hu, Y., Zhao, Y., Ren, S., Huo, L. : | |
| Association analysis of melanophilin (MLPH) gene expression and polymorphism with plumage color in quail. Arch Anim Breed 66:131-139, 2023. Pubmed reference: 37124941. DOI: 10.5194/aab-66-131-2023. | |
| 2019 | Lee, J., Ma, J., Lee, K. : |
| Direct delivery of adenoviral CRISPR/Cas9 vector into the blastoderm for generation of targeted gene knockout in quail. Proc Natl Acad Sci U S A 116:13288-13292, 2019. Pubmed reference: 31209054. DOI: 10.1073/pnas.1903230116. | |
| 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. | |
| 2008 | Bed'hom, B., Vaez, M., Coville, J.L., Gourichon, D., Tixier-Boichard, M., Minvielle, F., Burke, T. : |
| The lavender plumage colour phenotype in quail is caused by a large deletion in MLPH gene region. Proceedings of the XXXI International Conference of the International Society for Animal Genetics, Amsterdam, The Netherlands :Poster 2132, 2008. | |
| 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. DOI: 10.1093/jhered/esg091. | |
| 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 J Hered 93:73-6, 2002. Pubmed reference: 12011184. DOI: 10.1093/jhered/93.1.73. |
Edit History
- Created by Frank Nicholas on 24 Jan 2008
- 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 04 May 2013
- Changed by Imke Tammen2 on 25 Sep 2023
- Changed by Imke Tammen2 on 31 Dec 2024
- Changed by Imke Tammen2 on 27 Apr 2025