OMIA 001248-9685 : Mucolipidosis II in Felis catus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|GNPTAB||N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits||Felis catus||B4||NC_058374.1 (122197393..122123684)||GNPTAB||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|
|1035||Domestic Shorthair||Mucolipidosis II||GNPTAB||nonsense (stop-gain)||Naturally occurring variant||Felis_catus_9.0||B4||g.124431151G>A||c.2644C>T||p.(Q882*)||XM_003989173.5; XP_003989222.2||2018||30591066||Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.|
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||Khan, S.A., Tomatsu, S.C. :|
|Mucolipidoses overview: Past, present, and future. Int J Mol Sci 21:, 2020. Pubmed reference: 32957425. DOI: 10.3390/ijms21186812.|
|2018||Wang, P., Mazrier, H., Caverly Rae, J., Raj, K., Giger, U. :|
|A GNPTAB nonsense variant is associated with feline mucolipidosis II (I-cell disease). BMC Vet Res 14:416, 2018. Pubmed reference: 30591066. DOI: 10.1186/s12917-018-1728-1.|
|2012||Sewell, A.C., Haskins, M.E., Giger, U. :|
|Dried blood spots for the enzymatic diagnosis of lysosomal storage diseases in dogs and cats. Vet Clin Pathol 41:548-57, 2012. Pubmed reference: 23121383. DOI: 10.1111/j.1939-165x.2012.00485.x.|
|2003||Mazrier, H., Van Hoeven, M., Wang, P., Knox, VW., Aguirre, GD., Holt, E., Wiemelt, SP., Sleeper, MM., Hubler, M., Haskins, ME., Giger, U. :|
|Inheritance, biochemical abnormalities, and clinical features of feline mucolipidosis II: the first animal model of human I-cell disease. J Hered 94:363-73, 2003. Pubmed reference: 14557388.|
|1996||Bosshard, N.U., Hubler, M., Arnold, S., Briner, J., Spycher, M.A., Sommerlade, H.J., Vonfigura, K., Gitzelmann, R. :|
|Spontaneous mucolipidosis in a cat - an animal model of human I-cell disease Veterinary Pathology 33:1-13, 1996. Pubmed reference: 8826001.|
|Hubler, M., Haskins, M.E., Arnold, S., Kaserhotz, B., Bosshard, N.U., Briner, J., Spycher, M.A., Gitzelmann, R., Sommerlade, H.J., Vonfigura, K. :|
|Mucolipidosis type II in a domestic shorthair cat Journal of Small Animal Practice 37:435-441, 1996. Pubmed reference: 8887204.|
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