OMIA:000662-439704 : Motor neuron disease, lower in Porphyrio hochstetteri (South Island takahe)

In other species: dog , horse , pig , sheep

Categories: Nervous system phene

Links to MONDO diseases: No links.

Mendelian trait/disorder: unknown

Considered a defect: yes

Species-specific description: Jolly et al. (2023) report four takahē from different wildlife sanctuaries in New Zealand with a lower motor neuron disease associated with abnormal storage material in the endoplasmic reticulum.

Inheritance: Jolly et al. (2023): "A kindred matrix analysis showed two cases to be as closely related as first cousins, and another case was almost as closely related to one of them, but the fourth bird was unrelated to any other."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Pathology: Histopathological investigation identified two types of inclusion bodies in motor neurons of the ventral spinal cord and brain stem and the authors concluded that "this was an endoplasmic reticulum storage disease due to a specific protein misfolding within endoplasmic reticulum" (Jolly et al., 2023).

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000662-439704: Online Mendelian Inheritance in Animals (OMIA) [dataset].


2023 Jolly, R.D., Perrott, M.R., Alley, M.R., Hunter, S.A., Pas, A., Beard, H., Hemsley, K.M., Greaves, G. :
A lower motor neuron disease in takahē (Porphyrio hochstetteri) is an endoplasmic reticulum storage disease. N Z Vet J :1-16, 2023. Pubmed reference: 36938644. DOI: 10.1080/00480169.2023.2190549.

Edit History

  • Created by Imke Tammen2 on 21 Mar 2023
  • Changed by Imke Tammen2 on 21 Mar 2023