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

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

Possibly relevant human trait(s) and/or gene(s) (MIM number): 609227

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."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MLPH melanophilin Oryctolagus cuniculus - no genomic information (-..-) 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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Lionhead Dwarf Loh Netherland Dwarf Coat colour, dilute MLPH deletion, small (<=20) g.549853delG c.585delG p.L195LfsX123* 2013 24376820


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.
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.

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  • Created by Frank Nicholas on 15 Sep 2018