OMIA:000031-9986 : Coat colour, dilution, MLPH-related in Oryctolagus cuniculus (rabbit)

In other species: dog , domestic ferret , domestic cat , taurine cattle , sheep , American mink

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: 2013

Cross-species summary: FN acknowledges invaluable feedback from Cord Drögemüller that has led to the name of this phene being changed from "Coat colour, diluted" to "Coat colour, dilution, MLPH-related". At the same time, a new phene "Coat colour, dilution, generic" was created.

Molecular basis: By sequencing the MLPH gene in two dilute and one black rabbits, Lehner et al. (2013) discovered a "c.111-5C>A splice acceptor mutation within the polypyrimidine tract of intron 2", resulting in "p.QGL[37-39]QWA and a premature stop codon at p.K40*" as being a likely causal mutation for dilute. They also reported another likely causal mutation, namely a "frame shift mutation within exon 6 (c.585delG)" Adopting a comparative candidate gene strategy, Fontanesi et al. (2014) sequenced the rabbit MLPH gene and identified the same likely causal mutation mentioned by Lehner et al. (2013), namely "a deletion of one nucleotide in exon 5 (g.549853delG) that causes a shift in the reading frame that determines a completely different protein from the beginning of this exon . . . until the second half of exon 8 in which a stop codon would be introduced". By comparing the segregation of both variants with coat colour in 73 animals from two breeds, Demars et al. (2018) showed that only the deletion variant segregated perfectly with coat colour. Combining these results with other evidence, Demars et al. (2018) concluded that "The c.585delG variant remains as the most likely causative variant for coat color dilution in multiple rabbit breeds."

Breeds: Lionhead Dwarf, Loh, Netherland dwarf (Rabbit) (VBO_0001266).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MLPH melanophilin Oryctolagus cuniculus NW_026259270.1 (743904..707632) MLPH Homologene, Ensembl , NCBI gene


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
932 Lionhead Dwarf Loh Netherland dwarf (Rabbit) Coat colour, dilute MLPH deletion, small (<=20) Naturally occurring variant OryCun2.0 NW_003159466.1 g.549853del c.586del p.(E196fs) NM_001297485.1; NP_001284414.1; published as g.549853delG, c.585delG, p.(L195Lfs*123) - information in this table has been updated to reflect HGVS nomenclature recommendations 2013 24376820

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000031-9986: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.

2021 Dorożyńska, K., Maj, D. :
Rabbits - their domestication and molecular genetics of hair coat development and quality. Anim Genet 52:10-20, 2021. Pubmed reference: 33216407. DOI: 10.1111/age.13024.
Jia, X., Ding, P., Chen, S., Zhao, S., Wang, J., Lai, S. :
Analysis of MC1R, MITF, TYR, TYRP1, and MLPH genes polymorphism in four rabbit breeds with different coat colors. Animals (Basel) 11, 2021. Pubmed reference: 33466315. DOI: 10.3390/ani11010081.
2020 Li, J., Chen, Y., Liu, M., Chen, Q., Wu, X. :
Association of melanophilin (MLPH) gene polymorphism with coat colour in Rex rabbits World Rabbit Sci 28:29, 2020. DOI: doi: 10.4995/wrs.2020.12082.
2018 Demars, J., Iannuccelli, N., Utzeri, V.J., Auvinet, G., Riquet, J., Fontanesi, L., Allain, D. :
New insights into the Melanophilin MLPH) Gene Affecting Coat Color Dilution in Rabbits. Genes (Basel) 9, 2018. Pubmed reference: 30142960. DOI: 10.3390/genes9090430.
2014 Fontanesi, L., Scotti, E., Allain, D., Dall'olio, S. :
A frameshift mutation in the melanophilin gene causes the dilute coat colour in rabbit (Oryctolagus cuniculus) breeds. Anim Genet 45:248-55, 2014. Pubmed reference: 24320228. DOI: 10.1111/age.12104.
2013 Lehner, S., Gähle, M., Dierks, C., Stelter, R., Gerber, J., Brehm, R., Distl, O. :
Two-exon skipping within MLPH is associated with coat color dilution in rabbits. PLoS One 8:e84525, 2013. Pubmed reference: 24376820. DOI: 10.1371/journal.pone.0084525.
2012 Fontanesi, L., Scotti, E., Dall'Olio, S., Oulmouden, A., Russo, V. :
Identification and analysis of single nucleotide polymorphisms in the myosin VA (MYO5A) gene and its exclusion as the causative gene of the dilute coat colour locus in rabbit. World Rabbit Science 20:35-41, 2012.
1958 Robinson, R. :
Genetic studies of the rabbit. Bibliographia Genetica 17:229–558, 1958.
1909 Castle, W.E., Walter, H.E., Mullenix, R.C., Cobb, S. :
Studies of Inheritance in Rabbits. Carnegie Institute Washington Publication, Washington. series no. 114 , 1909.

Edit History

  • Created by Frank Nicholas on 15 Sep 2018
  • Changed by Imke Tammen2 on 09 Apr 2021
  • Changed by Imke Tammen2 on 06 Mar 2023