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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

Bertrand Bed’hom1, Mohsen Vaez25, Jean-Luc Coville1, David Gourichon3, Olivier Chastel4, Sarah Follett2, Terry Burke2 and Francis Minvielle16*

Author Affiliations

1 UMR 1313 INRA/AgroParisTech, Génétique Animale et Biologie Intégrative GABI, 78352 Jouy-en-Josas, France

2 Department of Animal and Plant Sciences, University of Sheffield, Sheffield, S10 2TN, UK

3 UE 1295 INRA, Pôle d’Expérimentation Animale de Tours PEAT, 37380, Nouzilly, France

4 UPR 1934 CNRS, Centre d’Etudes Biologiques de Chizé CEBC, 79360, Beauvoir sur Niort, France

5 Present address: Division of Genetics, Department of Biology, University of Isfahan, Isfahan, Iran

6 INRA-GABI, bat 211, Centre de Recherches de Jouy, 78352 Jouy-en-Josas, France

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BMC Genomics 2012, 13:442  doi:10.1186/1471-2164-13-442

Published: 31 August 2012



The lavender phenotype in quail is a dilution of both eumelanin and phaeomelanin in feathers that produces a blue-grey colour on a wild-type feather pattern background. It has been previously demonstrated by intergeneric hybridization that the lavender mutation in quail is homologous to the same phenotype in chicken, which is caused by a single base-pair change in exon 1 of MLPH.


In this study, we have shown that a mutation of MLPH is also associated with feather colour dilution in quail, but that the mutational event is extremely different. In this species, the lavender phenotype is associated with a non-lethal complex mutation involving three consecutive overlapping chromosomal changes (two inversions and one deletion) that have consequences on the genomic organization of four genes (MLPH and the neighbouring PRLH, RAB17 and LRRFIP1). The deletion of PRLH has no effect on the level of circulating prolactin. Lavender birds have lighter body weight, lower body temperature and increased feed consumption and residual feed intake than wild-type plumage quail, indicating that this complex mutation is affecting the metabolism and the regulation of homeothermy.


An extensive overlapping chromosome rearrangement was associated with a non-pathological Mendelian trait and minor, non deleterious effects in the lavender Japanese quail which is a natural knockout for PRLH.