OMIA 000402-9940 : Gangliosidosis, GM1 in Ovis aries |
Ahern-Rindell (2018) reported what could be the same variant: "A missence mutation has been found in exon 6 of the affected sheep’s beta-gal gene resulting in the loss of a cysteine residue possibly leading to the synthesis of an altered structural beta-gal but with detectable levels of protein product confirmed by Western Blotting."
Associated gene:Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
GLB1 | galactosidase beta 1 | Ovis aries | 19 | NC_040270.1 (8040366..7939562) | GLB1 | 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.
Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Romney Marsh | Gangliosidosis, GM1 | GLB1 | missense | c.G>T | p.CxxxF | 2012 | Reference not in PubMed; see OMIA 000402-9940 for reference details |
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.
2018 | Ahern-Rindell, A. : | |
A variant of GM1 gangliosidosis in a sheep model Molecular Genetics and Metabolism 123:S17, 2018. | ||
2012 | Walker, K.M., Holler, L.D., Beever, J.E. : | |
Ovine GM1-gangliosidosis is caused by a mutation in GLB1 Plant & Animal Genome (PAG) XX :Abstract P0589, 2012. | ||
2001 | Ryder, S.J., Simmons, M.M. : | |
A lysosomal storage disease of Romney sheep that resembles human type 3 G(M1) gangliosidosis Acta Neuropathologica 101:225-228, 2001. Pubmed reference: 11307621. | ||
1995 | Skelly, B.J., Jeffrey, M., Franklin, R.J.M., Winchester, B.G. : | |
A new form of ovine G(M1)-gangliosidosis Acta Neuropathologica 89:374-379, 1995. Pubmed reference: 7610770. | ||
1994 | Murnane, R.D., Prieur, D.J., Ahernrindell, A.J., Holler, L.D., Parish, S.M. : | |
Clinical and Clinicopathologic Characteristics of Ovine GM-1 Gangliosidosis Journal of Veterinary Internal Medicine 8:221-223, 1994. Pubmed reference: 8064659. | ||
1991 | Murnane, R.D., Ahern-Rindell, A.J., Prieur, D.J. : | |
Ultrastructural lesions of ovine GM1 gangliosidosis. Mod Pathol 4:755-62, 1991. Pubmed reference: 1788267. | ||
Murnane, R.D., Ahern-Rindell, A.J., Prieur, D.J. : | ||
Ovine GM1 Gangliosidosis Small Ruminant Research 6:109-118, 1991. | ||
Murnane, R.D., Hartley, W.J., Prieur, D.J. : | ||
Similarity of Lectin Histochemistry of a Lysosomal Storage Disease in a New-Zealand Lamb to That of Ovine GM1 Gangliosidosis Veterinary Pathology 28:332-335, 1991. Pubmed reference: 1949511. | ||
Murnane, R.D., Wright, R.W., Ahern-Rindell, A.J., Prieur, D.J. : | ||
Animal Model - Prenatal Lesions in an Ovine Fetus with GM1 Gangliosidosis American Journal of Medical Genetics 39:106-111, 1991. Pubmed reference: 1907804. DOI: 10.1002/ajmg.1320390123. | ||
Prieur, D.J., Ahern-Rindell, A.J., Murnane, R.D. : | ||
Ovine GM-1 Gangliosidosis American Journal of Pathology 139:1511-1513, 1991. Pubmed reference: 1750516. | ||
1990 | Prieur, D.J., Ahern-Rindell, A.J., Murnane, R.D., Wright, R.W., Parish, S.M. : | |
Inheritance of an Ovine Lysosomal Storage Disease Associated with Deficiencies of Beta-Galactosidase and Alpha- Neuraminidase Journal of Heredity 81:245-249, 1990. Pubmed reference: 2125614. | ||
1989 | Ahern-Rindell, A.J., Murnane, R.D., Prieur, D.J. : | |
Interspecific Genetic Complementation Analysis of Human and Sheep Fibroblasts with Beta-Galactosidase Deficiency Somatic Cell and Molecular Genetics 15:525-533, 1989. Pubmed reference: 2512653. | ||
Prieur, D.J., Ahern-Rindell, A.J. : | ||
Interspecific complementation analysis evidence that the lysosomal storage disease of sheep with deficiencies of beta-galactosidase and alpha-neuraminidase is due to a mutation of the beta-galactosidase structural gene (Abstract) American Journal of Human Genetics 45 (suppl.):A213 only, 1989. | ||
1988 | Ahern-Rindell, A.J., Prieur, D.J., Murnane, R.D., Raghaven, S.S., Daniel, P.F., McCluer, R.H., Walkley, S.U., Parish, S.M. : | |
Inherited lysosomal storage disease associated with deficiencies of beta-galactosidase and alpha-neuraminidase in sheep American Journal of Medical Genetics 31:39-56, 1988. Pubmed reference: 3146925. DOI: 10.1002/ajmg.1320310108. | ||
1986 | Ahern-Rindell, A.J., Prieur, D.J., Murnane, R.D. : | |
An inherited lysosomal storage disease of sheep associated with deficiencies of beta-galactosidase and alpha-neuraminidase (Abstract) American Journal of Human Genetics 39:A3 only, 1986. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 19 Jan 2012
- Changed by Frank Nicholas on 21 Mar 2012
- Changed by Frank Nicholas on 08 Feb 2018