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OMIA:000405-9940 : Gaucher disease, generic in Ovis aries (sheep)

In other species: dog , pig

Categories: Lysosomal storage disease

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 230800 (trait) , 608013 (trait) , 230900 (trait) , 231000 (trait) , 231005 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: A lysosomal storage disease in which there is a buildup (storage) of glucocerebroside in various tissues, due to the lack of the enzyme beta-glucocerebrosidase, whose task is to break down glucococerebroside into its constituent molecules. The buildup is associated with large foamy macrophages (Gaucher's cells). This phene has been renamed from 'Gaucher disease, type I' to 'Gaucher disease, generic'. Entries for specific types will be created (9/02/2023).

Species-specific description: Information previously been presented here in relation to Gaucher disease type II in South Down sheep has been moved to OMIA:002621-9940 : Gaucher disease, type II in Ovis aries [9/02/2023]

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

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:000405-9940: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

References

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.

2023 Winner, L.K., Beard, H., Karageorgos, L., Smith, N.J., Hopwood, J.J., Hemsley, K.M. :
The ovine Type II Gaucher disease model recapitulates aspects of human brain disease. Biochim Biophys Acta Mol Basis Dis 1869:166658, 2023. Pubmed reference: 36720445. DOI: 10.1016/j.bbadis.2023.166658.
2022 Murray, S.J., Mitchell, N.L. :
The translational benefits of sheep as large animal models of human neurological disorders. Front Vet Sci 9:831838, 2022. Pubmed reference: 35242840. DOI: 10.3389/fvets.2022.831838.
2017 Zhou, H., Zhang, Y., Suter, R., Gong, H., Fang, Q., Zhou, P., Hickford, J.G.H. :
A nucleotide substitution in exon 8 of the glucosylceramidase beta gene is associated with Gaucher disease in sheep. Anim Genet 48:733-734, 2017. Pubmed reference: 29023809. DOI: 10.1111/age.12613.
2016 Karageorgos, L., Hein, L., Rozaklis, T., Adams, M., Duplock, S., Snel, M., Hemsley, K., Kuchel, T., Smith, N., Hopwood, J.J. :
Glycosphingolipid analysis in a naturally occurring ovine model of acute neuronopathic Gaucher disease. Neurobiol Dis 91:143-54, 2016. Pubmed reference: 26976737. DOI: 10.1016/j.nbd.2016.03.011.
2011 Karageorgos, L., Lancaster, MJ., Nimmo, JS., Hopwood, JJ. :
Gaucher disease in sheep. J Inherit Metab Dis 34:209-15, 2011. Pubmed reference: 20978939. DOI: 10.1007/s10545-010-9230-3.
1968 Laws, L., Saal, JR. :
Lipidosis of the hepatic reticulo-endothelial cells in a sheep. Aust Vet J 44:416-7, 1968. Pubmed reference: 5693056.

Edit History


  • Created by Frank Nicholas on 11 Feb 2011
  • Changed by Frank Nicholas on 08 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 21 Mar 2012
  • Changed by Frank Nicholas on 17 Oct 2017
  • Changed by Imke Tammen2 on 17 Oct 2017
  • Changed by Imke Tammen2 on 09 Feb 2023
  • Changed by Imke Tammen2 on 25 Mar 2023
  • Changed by Imke Tammen2 on 09 Feb 2024