OMIA:000162-9103 : Cardiomyopathy, dilated in Meleagris gallopavo (turkey)

In other species: dog , domestic cat , pig , taurine cattle , rabbit , golden hamster , sea otter , meerkat , black-pencilled marmoset

Categories: Cardiovascular system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 107970 (trait) , 115200 (trait) , 611880 (trait) , 302060 (trait) , 302045 (trait) , 600884 (trait) , 601494 (trait)

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. This disorder occurs in many different forms (see gene specific entries), some of which are not inherited.

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:

Symbol Description Species Chr Location OMIA gene details page Other Links
TNNT2 troponin T type 2 (cardiac) Meleagris gallopavo 28 NC_015038.2 (265422..273601) TNNT2 Homologene, Ensembl , NCBI gene


By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
397 Cardiomyopathy, dilated TNNT2 splicing Naturally occurring variant delGGGCTCCTC 2002 11886865

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2012). OMIA:000162-9103: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2015 Frame, D.D., Kelly, E.J., Van Wettere, A. :
Dilated Cardiomyopathy in a Rio Grande Wild Turkey (Meleagris gallopavo intermedia) in Southern Utah, USA, 2013. J Wildl Dis 51:790-2, 2015. Pubmed reference: 25919467. DOI: 10.7589/2014-09-228.
2007 Lin, K.C., Xu, J., Kamara, D., Geng, T., Gyenai, K., Reed, K.M., Smith, E.J. :
DNA sequence and haplotype variation in two candidate genes for dilated cardiomyopathy in the turkey Meleagris gallopavo. Genome 50:463-9, 2007. Pubmed reference: 17612615. DOI: 10.1139/g07-022.
Reed, K.M., Mendoza, K.M., Hu, G.R., Sullivan, L.R., Grace, M.W., Chaves, L.D., Kooyman, D.L. :
Genomic analysis of genetic markers associated with inherited cardiomyopathy (round heart disease) in the turkey (Meleagris gallopavo). Anim Genet 38:211-7, 2007. Pubmed reference: 17433016. DOI: 10.1111/j.1365-2052.2007.01589.x.
2006 Lin, K.C., Gyenai, K., Pyle, R.L., Geng, T., Xu, J., Smith, E.J. :
Candidate gene expression analysis of toxin-induced dilated cardiomyopathy in the turkey (Meleagris gallopavo). Poult Sci 85:2216-21, 2006. Pubmed reference: 17135679. DOI: 10.1093/ps/85.12.2216.
2004 Biesiadecki, BJ., Schneider, KL., Yu, ZB., Chong, SM., Jin, JP. :
An R111C polymorphism in wild turkey cardiac troponin I accompanying the dilated cardiomyopathy-related abnormal splicing variant of cardiac troponin T with potentially compensatory effects. J Biol Chem 279:13825-32, 2004. Pubmed reference: 14736877. DOI: 10.1074/jbc.M314225200.
2002 Biesiadecki, B.J., Jin, J.P. :
Exon skipping in cardiac troponin T of turkeys with inherited dilated cardiomyopathy Journal of Biological Chemistry 277:18459-18468, 2002. Pubmed reference: 11886865. DOI: 10.1074/jbc.M200788200.
1996 Genao, A., Seth, K., Schmidt, U., Carles, M., Gwathmey, J.K. :
Dilated cardiomyopathy in turkeys - an animal model for the study of human heart failure Laboratory Animal Science 46:399-404, 1996. Pubmed reference: 8872990.
1993 Gruver, E.J., Glass, M.G., Marsh, J.D., Gwathmey, J.K. :
An Animal Model of Dilated Cardiomyopathy - Characterization of Dihydropyridine Receptors and Contractile Performance American Journal of Physiology 265:H1704-H1711, 1993. Pubmed reference: 8238583.

Edit History

  • Created by Frank Nicholas on 29 Nov 2005
  • Changed by Frank Nicholas on 12 Oct 2011
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Frank Nicholas on 22 Jan 2012