OMIA:000175-9925 : Cerebellar abiotrophy in Capra hircus (goat)

In other species: dog , domestic cat , horse , taurine cattle , sheep , Magellanic penguin

Categories: Nervous system phene

Possibly relevant human trait(s) and/or gene(s) (MIM number): 600224 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: Also known as neonatal cerebellar cortical degeneration (NCCD)

Inheritance: In the only published report to date, Koehler et al. (2015) reported familial occurrence but no segregation analysis: "All the goats were of mixed-breed and were from a small scale hobby farm in Alabama. Case 1 was a 9-month-old male and cases 2 (male) and 3 (female) were 6-month-old twins. All affected animals had the same sire and the two dams were both half-sisters to each other and second cousins to the sire. Of the seven kids born from the matings of the sire and these two dams, five have been affected and two unaffected; currently, two affected animals and two unaffected animals are alive. A mating between the sire and a third dam (also a half-sister to these dams by the same sire) has produced two unaffected offspring."

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

Clinical features: As reported by Koehler et al. (2015), "The animals all presented with early juvenile-onset ataxia, hypermetria, wide-based stance, head tremors and nystagmus. On MRI and at gross examination, there was moderate thinning of the cerebellar vermis and sharpening of the folia. Histologically, the vermis, paravermis and flocculonodular lobe had moderate to severe segmental loss of Purkinje cells with sparing of the hemispheres and secondary loss of granule cells and astrogliosis."

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2022). OMIA:000175-9925: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

2015 Koehler, J.W., Newcomer, B.W., Holland, M., Caldwell, J.M. :
A Novel Inherited Cerebellar Abiotrophy in a Cohort of Related Goats. J Comp Pathol 153:135-9, 2015. Pubmed reference: 26184806. DOI: 10.1016/j.jcpa.2015.06.001.

Edit History


  • Created by Frank Nicholas on 31 Dec 2015
  • Changed by Frank Nicholas on 31 Dec 2015
  • Changed by Imke Tammen2 on 27 Oct 2022