OMIA 000405-9940 : Gaucher disease, type I in Ovis aries
After analysis in additional animals and use of variant prediction algorithms, Zhou et al. (2017) concluded that their results "suggest that [the] c.1142G>A [variant] in exon 8 of GBA is the causative mutation of Gaucher disease in the Southdown sheep studied." In contrast, the c.1400C>T (p.P467L) variant exists in homozygous form in asymptomatic animals.Breed: Southdown. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|GBA||glucosidase, beta, acid||Ovis aries||1||NC_056054.1 (105408943..105400242)||GBA||Homologene, Ensembl, NCBI gene|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
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|
|231||Southdown||Gaucher disease, type||GBA||missense||Naturally occurring variant||Oar_rambouillet_v1.0||1||g.111561271C>T||c.1142G>A||p.(C381Y)||Oar_v3.1 position is g.103978212C>T||rs429928390||2017||29023809||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool. The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager, EMAI, NSW Department of Primary Industries.|
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.
|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 :, 2017. Pubmed reference: 29023809. DOI: 10.1111/age.12613.|
|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.|
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