OMIA 000419-9615 : Glycogen storage disease II in Canis lupus familiaris |
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
GAA | glucosidase, alpha; acid | Canis lupus familiaris | 9 | NC_051813.1 (2247757..2233266) | GAA | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Finnish Lapphund Swedish Lapphund | Glycogen storage disease II | GAA | nonsense (stop-gain) | CanFam3.1 | 9 | g1603730G>A | c.2237G>A | p.W746* | 2013 | 23457621 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool |
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.
2020 | Almodóvar-Payá, A., Villarreal-Salazar, M., de Luna, N., Nogales-Gadea, G., Real-Martínez, A., Andreu, A.L., Martín, M.A., Arenas, J., Lucia, A., Vissing, J., Krag, T., Pinós, T. : | |
Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models. Int J Mol Sci 21:, 2020. Pubmed reference: 33348688. DOI: 10.3390/ijms21249621. | ||
2013 | Seppälä, E.H., Reuser, A.J., Lohi, H. : | |
A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds. PLoS One 8:e56825, 2013. Pubmed reference: 23457621. DOI: 10.1371/journal.pone.0056825. | ||
1993 | Reuser, A.J.J. : | |
Molecular Biology, Therapeutic Trials and Animal Models of Lysosomal Storage Diseases - Type-II Glycogenosis as an Example Annales de Biologie Clinique 51:218-219, 1993. | ||
1985 | Walvoort, HC. : | |
Glycogen storage disease type II in the Lapland dog. Vet Q 7:187-90, 1985. Pubmed reference: 3901497. | ||
Walvoort, HC., Dormans, JA., van den Ingh, TS. : | ||
Comparative pathology of the canine model of glycogen storage disease type II (Pompe's disease). J Inherit Metab Dis 8:38-46, 1985. Pubmed reference: 3921759. | ||
Walvoort, HC., Koster, JF., Reuser, AJ. : | ||
Heterozygote detection in a family of Lapland dogs with a recessively inherited metabolic disease: canine glycogen storage disease type II. Res Vet Sci 38:174-8, 1985. Pubmed reference: 3923581. | ||
1984 | Walvoort, HC., Slee, RG., Sluis, KJ., Koster, JF., Reuser, AJ. : | |
Biochemical genetics of the Lapland dog model of glycogen storage disease type II (acid alpha-glucosidase deficiency). Am J Med Genet 19:589-98, 1984. Pubmed reference: 6391168. DOI: 10.1002/ajmg.1320190323. | ||
1983 | Walvoort, HC. : | |
Glycogen storage diseases in animals and their potential value as models of human disease. J Inherit Metab Dis 6:3-16, 1983. Pubmed reference: 6408305. | ||
1982 | Walvoort, HC., Slee, RG., Koster, JF. : | |
Canine glycogen storage disease type II. A biochemical study of an acid alpha-glucosidase-deficient Lapland dog. Biochim Biophys Acta 715:63-9, 1982. Pubmed reference: 7041988. | ||
1970 | Mostafa, I.E. : | |
A case of glycogenic cardiomegaly in a dog Acta Veterinaria Scandinavica 11:197-208, 1970. Pubmed reference: 5270856. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 17 May 2013