GEPHE SUMMARY Print
gray wolf; grey wolf; Canis lupus Linnaeus, 1758
Show more ... rata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis
NCBI Taxonomy ID
is Taxon A an Infraspecies?
Canis canis; Canis domesticus; Canis familiaris; dog; dogs; Canis familiaris Linnaeus, 1758; Canis lupus familiaris Linnaeus, 1758
Show more ... tomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis; Canis lupus
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Taxon B Description
Canis familiaris -"dilute"
Generic Gene Name
ln; l1Rk3; Slac-2a; AW228792; D1Wsu84e; l(1)-3Rk; 2210418F23Rik; 5031433I09Rik; Ln; Slac2a
GO - Molecular Function
GO:0046872 : metal ion binding ... show more
GO - Biological Process
GO:0043473 : pigmentation ... show more
GO - Cellular Component
GO:0015629 : actin cytoskeleton ... show more
Molecular Details of the Mutation
Van Buren SL; Minor KM; Grahn RA; Mickelson JR; Grahn JC; Malvick J; Colangelo JR; Mueller E; et al. ... show more
Altered melanosome transport in melanocytes, resulting from variants in the melanophilin (MLPH) gene, are associated with inherited forms of coat color dilution in many species. In dogs, the MLPH gene corresponds to the D locus and two variants, c.-22G > A (d) and c.705G > C (d), leading to the dilution of coat color, as described. Here, we describe the independent investigations of dogs whose coat color dilution could not be explained by known variants, and who report a third MLPH variant, (c.667_668insC) (d), which leads to a frameshift and premature stop codon (p.His223Profs*41). The d allele is found at low frequency in multiple dog breeds, as well as in wolves, wolf-dog hybrids, and indigenous dogs. Canids in which the d allele contributed to the grey (dilute) phenotype were d/d compound heterozygotes or d homozygotes, and all non-dilute related dogs had one or two D alleles, consistent with a recessive inheritance. Similar to other loci responsible for coat colors in dogs, this, alongside likely additional allelic heterogeneity at the D locus, or other loci, must be considered when performing and interpreting genetic testing.
@Parallelism @AllelicSeries https://omia.org/OMIA000031/9615/
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