OMIA:002285-9940 : Muscular dystrophy, TNNT1-related in Ovis aries (sheep)
Categories: Muscle phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2020
Species-specific name: Ovine congenital progressive muscular dystrophy
Species-specific symbol: OCPMD
Molecular basis: Clayton et al. (2020) reported "the genetic cause of the well-characterized model of ovine congenital progressive muscular dystrophy from Western Australia", namely "a single base deletion at the splice donor site (+ 1) of intron 13 in the type I myofibre-specific TNNT1 gene (KT218690 c.614 + 1delG)".
Clinical features: Clayton et al. (2020): "The most prominent feature of the disease is a distinctive gait with stiffness of the hind limbs that can be seen as early as 3 weeks after birth. The disease is progressive. Histopathological examination had revealed dystrophic changes specifically in type I (slow) myofibres, while electron microscopy had demonstrated abundant nemaline bodies. Therefore, it was never certain whether the disease was a dystrophy or a congenital myopathy with dystrophic features." Based on evidence in this paper, the authors now "re-classify it as a congenital myopathy with dystrophic features".
Merino (Sheep) (VBO_0001508).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|TNNT1||troponin T type 1 (skeletal, slow)||Ovis aries||14||NC_056067.1 (63054110..63065847)||TNNT1||Homologene, Ensembl , NCBI gene|
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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||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1238||Merino (Sheep)||Ovine congenital progressive muscular dystrophy||TNNT1||deletion, small (<=20)||Naturally occurring variant||Oar_rambouillet_v1.0||14||g.66970247del||c.614+1del||"KT218690 c.614 + 1delG" (Clayton et al., 2020); Oar3.1 chr14: g.59556001delG and Oar4.0 chr14: g.59437065delG (Josh Clayton, pers comm., 7 Sep 2020) is a splice variant 210906 to conform with HGVS notation, FN deleted the "G" from g.66970247delG and c.614+1delG||2020||32819427|
Cite this entry
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.
|2020||Clayton, J.S., McNamara, E.L., Goullee, H., Conijn, S., Muthsam, K., Musk, G.C., Coote, D., Kijas, J., Testa, A.C., Taylor, R.L., O'Hara, A.J., Groth, D., Ottenheijm, C., Ravenscroft, G., Laing, N.G., Nowak, K.J. :|
|Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy. Acta Neuropathol Commun 8:142, 2020. Pubmed reference: 32819427 . DOI: 10.1186/s40478-020-01017-1.|
|1997||Johnsen, R.D., Laing, N.G., Huxtable, C.R., Kakulas, B.A. :|
|Normal expression of adhalin and merosin in ovine congenital progressive muscular dystrophy Australian Veterinary Journal 75:215-216, 1997. Pubmed reference: 9088516 . DOI: 10.1111/j.1751-0813.1997.tb10070.x.|
|1990||Nakada, H., Jacobsen, P.F., Johnsen, R.D., Kakulas, B.A. :|
|Positive immunostaining of ovine congenital progressive muscular dystrophy with antibody against N-terminal and C-terminal dystrophin. Australian Veterinary Journal 67:271-272, 1990. Pubmed reference: 2203334 . DOI: 10.1111/j.1751-0813.1990.tb07789.x.|
|1989||Richards, R.B., Passmore, I.K. :|
|Ultrastructural changes in skeletal muscle in ovine muscular dystrophy. Acta Neuropathologica 79:168-175, 1989. Pubmed reference: 2596265 . DOI: 10.1007/BF00294375.|
|1988||Richards, R.B., Passmore, I.K., Dempsey, E.F. :|
|Skeletal muscle pathology in ovine congenital progressive muscular dystrophy. 1. Histopathology and histochemistry. Acta Neuropathol 77:161-7, 1988. Pubmed reference: 2976227 . DOI: 10.1007/BF00687426.|
|Richards, R.B., Passmore, I.K., Dempsey, E.F. :|
|Skeletal muscle pathology in ovine congenital progressive muscular dystrophy. 2. Myofiber morphometry. Acta Neuropathol 77:95-99, 1988. Pubmed reference: 3239379 . DOI: 10.1007/BF00688248.|
|Richards, R.B., Lewer, R.P., Passmore, I.K., McQuade, N.C. :|
|Ovine congenital progressive muscular dystrophy: mode of inheritance Australian Veterinary Journal 65:93-94, 1988. Pubmed reference: 3401155 . DOI: 10.1111/j.1751-0813.1988.tb07373.x.|
|1986||Richards, R.B., Passmore, I.K., Bretag, A.H., Kakulas, B.A., McQuade, N.C. :|
|Ovine congenital progressive muscular dystrophy: clinical syndrome and distribution of lesions. Aust Vet J 63:396-401, 1986. Pubmed reference: 3800794 . DOI: 10.1111/j.1751-0813.1986.tb15916.x.|
|1979||Dent, A.C., Richards, R.B., Nairn, M.E. :|
|Congenital progressive ovine muscular dystrophy in Western Australia. Aust Vet J 55:297, 1979. Pubmed reference: 518429 . DOI: 10.1111/j.1751-0813.1979.tb14725.x.|
|1969||McGavin, M.D., Baynes, I.D. :|
|A congenital progressive ovine muscular dystrophy. Pathol Vet 6:513-24, 1969. Pubmed reference: 5393728 . DOI: 10.1177/030098586900600604.|
- Created by Frank Nicholas on 31 Aug 2020
- Changed by Frank Nicholas on 31 Aug 2020