Categories: Pigmentation phene , Vision / eye phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 600510 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal dominant

Disease-related: yes

Key variant known: no

Inheritance: Peterson-Jones et al. (2007) provided evidence of autosomal dominant inheritance in Cairn Terriers.

Mapping: Winkler et al. (2024) conducted a genome-wide association study (GWAS) using 63 Cairn Terriers with ocular melanosis (OM) and 31 control Cairn Terriers and identified a " ~9.2 Mb region of chromosome 11 was significantly associated with OM. Haplotype analysis narrowed the region to 1.49 Mb. Genotyping of a SNP within the region showed 86% of OM-affected dogs were homozygous or heterozygous for the risk allele, whereas 78% of unaffected dogs were homozygous for the nonrisk allele. Sequencing of the coding regions and splice sites of four genes ... did not detect any genetic variants unique to OM-affected dogs."

Molecular basis: Winkler et al. (2013) excluded 11 candidate genes in Cairn Terriers.

Breeds: Cairn Terrier (Dog) (VBO_0200267), Shih Tzu (Dog) (VBO_0201223).
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).