Categories: Renal / urinary system phene

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: no

Species-specific name: Black kidney

Species-specific symbol: RL

Species-specific description: "Affected animals are identified at slaughter by their discolored kidneys, justifying the more common designation of 'black kidney disease'. RL is not accompanied by gross renal dysfunction, yet it may cause more insidious deleterious effects, as evidenced by a reduced longevity of affected animals." (Charlier et al., 2008)

Mapping: In a pioneering use of tens of thousands of SNP markers ("using either the 25K Affymetrix SNP panel or a custom-made 60K Illumina panel"), Charlier et al. (2008) identified a single 0.87 Mb region on BTA17 in which 6 affected calves were significantly more homozygous for the same allele at each of many SNPs, when compared with 24 normal controls. An investigation of candidate genes in this region is currently being undertaken.

Pathology: "RL is characterized by the accumulation of lipofuscine granules in secondary lysosomes of renal proximal tubular epithelial cells, as well as in macrophages and in the reticular and endothelial cells of kidney-associated lymph nodes." (Charlier et al., 2008)

Breeds: Danish Holstein (Cattle) (VBO_0000190), Red Dane (Cattle) (VBO_0000353).
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).