OMIA:001461-9940 : Gangliosidosis, GM2, type I (B variant) in Ovis aries (sheep)

In other species: American flamingo , dog , pig , muntjak , taurine cattle , rabbit

Categories: Lysosomal storage disease , Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 272800 (trait) , 606869 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: 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).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
HEXA hexosaminidase A (alpha polypeptide) Ovis aries 7 NC_056060.1 (19135657..19104364) HEXA Homologene, Ensembl , NCBI gene

Variants

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 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 NC_040258.1:g.20584348C>G NM_001126343.1: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

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2021). OMIA:001461-9940: 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.

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 150:253-7, 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.

Edit History


  • 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