Categories: Muscle phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 605355 (trait) , 191041 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: 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".

Breed: Merino (Sheep) (VBO_0001508).
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).

Associated gene: