OMIA 001342-9615 : Mucopolysaccharidosis IIIB in Canis lupus familiaris
If anyone knows of a peer-reviewed publication describing this discovery, please email email@example.comGenetic testing: A DNA test is available from PennGen Laboratories: http://research.vet.upenn.edu/penngen/PennGenHome/tabid/91/Default.aspx Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|NAGLU||N-acetylglucosaminidase, alpha||Canis lupus familiaris||9||NC_006591.3 (20414094..20407296)||NAGLU||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.
|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|
|Schipperke||Mucopolysaccharidosis IIIB||NAGLU||insertion, gross (>20)||"a poly(A) insertion (~45 adenines) in the sixth exon of the NAGLU gene. The poly(A) insert is flanked on the 3 border by a 13 bp repeat of the native NAGLU sequence immediately 5 to the poly(A) insert. The insert was found to be polymorphic in the affected individual, differing by the number of adenine residues present. The insert is predicted to lead to the insertion of ~15 lysine residues starting after amino acid 704 of the unmodified protein sequence."||2003||Reference not in PubMed; see OMIA 001342-9615 for reference details|
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.
|2003||Ellinwood, N.M., Henthorn, P.S., Giger, U., Haskins, M.E. :|
|Mucopolysaccharidosis type IIIB: Identification of the causative mutation in the canine model American Society of Human Genetics, 2003 conference :abstract 1635, 2003.|
|Ellinwood, NM., Wang, P., Skeen, T., Sharp, NJ., Cesta, M., Decker, S., Edwards, NJ., Bublot, I., Thompson, JN., Bush, W., Hardam, E., Haskins, ME., Giger, U. :|
|A model of mucopolysaccharidosis IIIB (Sanfilippo syndrome type IIIB): N-acetyl-alpha-D-glucosaminidase deficiency in Schipperke dogs. J Inherit Metab Dis 26:489-504, 2003. Pubmed reference: 14518829.|
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