OMIA:001461-9940 : Gangliosidosis, GM2, type I (B variant) in Ovis aries
Categories: Lysosomal storage disease
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2010
Cross-species summary: Tay-Sachs disease
Molecular basis: Torres et al. (2010) reported the causative mutation in Jacob sheep from North America as being a "mutation . . . in the hexa cDNA of the affected sheep caused by a single nucleotide change [c.1330G>C; G444R] at the end of exon 11 resulting in skipping of exon 11". Wessels et al. (2013) reported exactly the same mutation in British Jacob sheep.
Breed: Jacob (Sheep) (VBO_0001450).
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|HEXA||hexosaminidase A (alpha polypeptide)||Ovis aries||7||NC_056060.1 (19135657..19104180)||HEXA||Homologene, Ensembl , NCBI gene|
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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|
|387||Jacob (Sheep)||Gangliosidosis, GM2, type I (B variant)||HEXA||splicing||Naturally occurring variant||Oar_rambouillet_v1.0||7||g.20584348C>G||c.1330G>C||The variant [c.1330G>C; G444R] at the end of exon 11 effects splicing and results in skipping of exon 11.||2010||20817517||The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager, EMAI, NSW Department of Primary Industries.|
Cite this entry
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.|
|2021||Neov, B., Krastanov, J., Angelova, T., Palova, N., Laleva, S., Hristov, P. :|
|Sequence analysis of the Hex A gene in Jacob sheep from Bulgaria. Vet World 14:56-60, 2021. Pubmed reference: 33642786 . DOI: 10.14202/vetworld.2021.56-60.|
|Story, B., Taghian, T., Gallagher, J., Koehler, J., Taylor, A., Randle, A., Nielsen, K., Gross, A., Maguire, A., Carl, S., Johnson, S., Fernau, D., Diffie, E., Cuddon, P., Corado, C., Chandra, S., Sena-Esteves, M., Kolodny, E., Jiang, X., Martin, D., Gray-Edwards, H. :|
|Natural history of Tay-Sachs disease in sheep. Mol Genet Metab 134:164-174, 2021. Pubmed reference: 34456134 . DOI: 10.1016/j.ymgme.2021.08.009.|
|2020||Cavender, C., Mangini, L., Van Vleet, J.L., Corado, C., McCullagh, E., Gray-Edwards, H.L., Martin, D.R., Crawford, B.E., Lawrence, R. :|
|Natural history study of glycan accumulation in large animal models of GM2 gangliosidoses. PLoS One 15:e0243006, 2020. Pubmed reference: 33259552 . DOI: 10.1371/journal.pone.0243006.|
|2016||Lawson, C.A., Martin, D.R. :|
|Animal models of GM2 gangliosidosis: utility and limitations. Appl Clin Genet 9:111-20, 2016. Pubmed reference: 27499644 . DOI: 10.2147/TACG.S85354.|
|2014||Lewis, C., Wessels, M., Carty, H., Baird, P., Cox, T., Cachón, B., Wang, S., Holmes, P., Mackintosh, A., Chianini, F. :|
|Testing sheep for GM2 gangliosidosis. Vet Rec 175:260, 2014. Pubmed reference: 25217607 . DOI: 10.1136/vr.g5560.|
|Wessels, M., Carty, H., Baird, P., Beggs, N., Cox, T., Cachón, B., Wang, S., Davies, I., Holmes, P., Mackintosh, A., Chianini, F. :|
|GM2 gangliosidosis in British Jacob sheep. Vet Rec 174:20-1, 2014. Pubmed reference: 24391178 . DOI: 10.1136/vr.f7635.|
|2013||Wessels, M.E., Holmes, J.P., Jeffrey, M., Jackson, M., Mackintosh, A., Kolodny, E.H., Zeng, B.J., Wang, C.B., Scholes, S.F. :|
|GM2 Gangliosidosis in British Jacob Sheep. J Comp Pathol :, 2013. Pubmed reference: 24309906 . DOI: 10.1016/j.jcpa.2013.10.003.|
|2011||Porter, B.F., Lewis, B.C., Edwards, J.F., Alroy, J., Zeng, B.J., Torres, P.A., Bretzlaff, K.N., Kolodny, E.H. :|
|Pathology of GM2 gangliosidosis in Jacob sheep. Vet Pathol 48:807-13, 2011. Pubmed reference: 21123862 . DOI: 10.1177/0300985810388522.|
|2010||Torres, P.A., Zeng, B.J., Porter, B.F., Alroy, J., Horak, F., Horak, J., Kolodny, E.H. :|
|Tay-Sachs disease in Jacob sheep. Mol Genet Metab 101:357-63, 2010. Pubmed reference: 20817517 . DOI: 10.1016/j.ymgme.2010.08.006.|
- Created by Frank Nicholas on 08 Jul 2012
- Changed by Frank Nicholas on 19 Jun 2013
- Changed by Frank Nicholas on 08 Dec 2013
- Changed by Imke Tammen2 on 12 Apr 2021
- Changed by Imke Tammen2 on 17 Sep 2021