In other species: domestic cat , cattle , dog , pig , golden hamster , sea otter , rabbit

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 107970 , 115200 , 611880 , 302060 , 302045 , 600884 , 601494

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2002

Cross-species summary: A disorder characterised by cardiac enlargement (especially of the left ventricle), poor myocardial contractility, and congestive heart failure.

Molecular basis: Biesiadecki et al. (2002) reported "that turkeys with inherited dilated cardiomyopathy and heart failure express an unusual low molecular weight cardiac troponin T missing 11 amino acids due to the splice out of the normally conserved exon 8-encoded segment. The deletion of a 9-bp segment from intron 7 of the turkey cardiac troponin T gene may be responsible for the weakened splicing of the downstream exon 8 during mRNA processing. The exclusion of the exon 8-encoded segment results in conformational changes in cardiac troponin T, an altered binding affinity for troponin I and tropomyosin, and an increased calcium sensitivity of the actomyosin ATPase. Expression of the exon 8-deleted cardiac troponin T prior to the development of cardiomyopathy in turkeys indicates a novel RNA splicing disease and provides evidence for the role of troponin T structure-function variation in myocardial pathogenesis and heart failure."

Associated gene: