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:

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. 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).

Associated 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

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 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

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). 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.

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.
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.
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.

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