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 (d¹) and c.705G > C (d²), 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) (d³), which leads to a frameshift and premature stop codon (p.His223Profs*41). The d³ 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 d³ allele contributed to the grey (dilute) phenotype were d¹/d³ compound heterozygotes or d³ 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.

Background : The features of juvenile‐onset calcium oxalate urolithiasis in dogs have not been previously reported. Methods : Calcium oxalate urolith submissions to the Minnesota Urolith Center between 2012 and 2016 were analyzed to identify those originating from juvenile (≤2 years, n = 510) or mature (7–9 years, n = 39,093) dogs. Breed, sex, urolith salt type and urolith location were compared between groups. Breeds represented in both groups were also compared with respect to sex, urolith salt type and urolith location. Results : French (odds ratios [OR] = 14.7, p < 0.001) and English (OR = 14.3, p < 0.001) Bulldogs were overrepresented in juvenile submissions. All juvenile French and English Bulldogs were male. Across all breeds, juvenile dogs were more likely to be male (89%, p < 0.001) than mature dogs (79%). Juvenile dogs were also more likely to form dihydrate stones compared to mature dogs (33% versus 14%, respectively; p < 0.001). Breed differences were discovered in sex, urolith salt type and stone location. Conclusions : French and English Bulldogs comprise a greater proportion of juvenile calcium oxalate urolith submissions than expected based on their rarity in mature submissions. Inherited risk factors, particularly X chromosome variants, should be investigated due to the strong breed and sex predispositions identified.

Anhidrosis is defined as a decreased or absent ability to sweat in response to heat and exercise. In horses, this condition can increase the risk of life‐threatening hyperthermia. A prior study has suggested that equine anhidrosis is associated with a missense variant (rs68643109) in the Potassium Voltage‐Gated Channel Subfamily E Regulatory Subunit 4 (KCNE4) gene. This project aimed to validate this association in a population of well‐phenotyped horses and to determine the allele frequency of this variant in publicly available whole‐genome sequence data. Fifty horses within the University of California Davis Center for Equine Health herd were evaluated for anhidrosis using a series of intradermal terbutaline injections. From existing whole‐genome sequence data, the rs68643109 genotype of each horse was identified. When stimulated with terbutaline, all 50 horses produced sweat. All three genotypes at rs68643109 were present in this population of horses; the allele previously associated with anhidrosis (G) was present at a frequency of 0.72. No statistical difference in total sweat score was found (p = 0.31). In whole‐genome sequences from 820 other horses reported across three prior studies, the alternative (candidate) allele frequency was similarly high, ranging from 0.52 to 0.68. Since all 50 horses tested in our population produced sweat regardless of genotype, and the previously associated allele is present at a high frequency across datasets, these data fail to validate the missense variant within the KCNE4 gene as causative of or contributing to equine anhidrosis.