The Striatin (STRN) mutation was found in both ARVC-affected and normal Boxers, showing it is not the causal mutation for the disease, though it is genetically linked to the responsible gene.
Observational
The STRN mutation is not the causal mutation for ARVC in Boxer dogs, though it is genetically linked to the true causal gene and may modify disease severity in homozygotes.
The objective of this paper was to investigate by pedigree-based genetic means the origins and inheritance of arrhythmogenic right ventricular cardiomyopathy (ARVC) in UK Boxers and assess the role of the proposed causal mutation in the gene, Striatin (STRN). All ARVC cases traced back to a small number of imported American dogs deriving from the group of Boxers studied by Harpster (1983) to define the disease, strongly suggesting that the disease is the same in the two countries. Dogs with and without the STRN mutation were found in both ARVC affected and normal Boxers showing that the mutation is not responsible for the disease. Evidence was found that the STRN mutation is, however, genetically linked with the gene responsible on the same chromosome. The linkage implies that the two genes can separate by meiotic recombination such that both ARVC-affected and ARVC-unaffected lines of dogs may carry either the STRN mutation or its wild-type allele. These have been found. Homozygotes for the STRN mutation tended to be severely affected at early ages, suggesting that there is an interaction between the known effects of the STRN mutation on the cardiomyocyte and ARVC.
Cattanach et al. (Fri,) conducted a observational in Arrhythmogenic right ventricular cardiomyopathy (ARVC). Striatin (STRN) mutation vs. Without STRN mutation was evaluated on Presence of ARVC. The Striatin (STRN) mutation was found in both ARVC-affected and normal Boxers, showing it is not the causal mutation for the disease, though it is genetically linked to the responsible gene.