GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00000648
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Oryctolagus cuniculus
Trait State in Taxon B
Oryctolagus cuniculus - dilute breeds
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
-
Synonyms
-
Rank
genus
Lineage
Show more ... Vertebrata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Glires; Lagomorpha; Leporidae
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
-
Synonyms
-
Rank
genus
Lineage
Show more ... Vertebrata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Glires; Lagomorpha; Leporidae
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
Oryctolagus cuniculus - dilute breeds
GENOTYPIC CHANGE
Presumptive Null
Yes
Molecular Type
Aberration Type
Deletion Size
1-9 bp
Molecular Details of the Mutation
1bp deletion resulting in frameshift
Experimental Evidence
Authors
Fontanesi L; Scotti E; Allain D; Dall'olio S
Abstract
In rabbit, the dilute locus is determined by a recessive mutated allele (d) that causes the dilution of both eumelanic and pheomelanic pigmentations. In mice, similar phenotypes are determined by mutations in the myosin VA, Rab27a and melanophilin (MLPH) genes. In this study, we investigated the rabbit MLPH gene and showed that a mutation in this gene appears responsible for the dilute coat colour in this species. Checkered Giant F1 families segregating for black and grey (diluted or blue) coat colour were first genotyped for a complex indel in intron 1 of the MLPH gene that was completely associated with the coat colour phenotype (θ = 0.00; LOD = 4.82). Then, we sequenced 6357 bp of the MLPH gene in 18 rabbits of different coat colours, including blue animals. A total of 165 polymorphisms were identified: 137 were in non-coding regions and 28 were in coding exons. One of them was a frameshift deletion in exon 5. Genotyping the half-sib families confirmed the complete cosegregation of this mutation with the blue coat colour. The mutation was analysed in 198 rabbits of 23 breeds. All Blue Vienna and all other blue/grey/ash rabbits in other breeds (Californian, Castor Rex, Checkered Giant, English Spot, Fairy Marburg and Fairy Pearly) were homozygous for this deletion. The identification of MLPH as the responsible gene for the dilute locus in rabbit provides a natural animal model for human Griscelli syndrome type 3 and a new mutant to study the role of this gene on pigmentation.

© 2013 Stichting International Foundation for Animal Genetics.
Additional References
RELATED GEPHE
Related Genes
Related Haplotypes
1
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