OMIA 001342-9615 : Mucopolysaccharidosis IIIB in Canis lupus familiaris |
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
NAGLU | N-acetylglucosaminidase, alpha | Canis lupus familiaris | 9 | NC_051813.1 (21133008..21126245) | NAGLU | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Schipperke | Mucopolysaccharidosis IIIB | NAGLU | insertion, gross (>20) | CanFam3.1 | 9 | c.2110_2111ins[A(40_70);2100_2110] | "an insertion (XM_548088.6:c.2110_2111ins[A(40_70);2100_2110]) comprised of a homopolymer of A residues (poly-A) and an 11 bp duplication of the sequence directly upstream of the poly-A" (Raj et al. (2020) | 2020 | 32081995 |
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 | Egeland, M.T., Tarczyluk-Wells, M.M., Asmar, M.M., Adintori, E.G., Lawrence, R., Snella, E.M., Jens, J.K., Crawford, B.E., Wait, J.C.M., McCullagh, E., Pinkstaff, J., Cooper, J.D., Ellinwood, N.M. : | |
Central nervous system pathology in preclinical MPS IIIB dogs reveals progressive changes in clinically relevant brain regions. Sci Rep 10:20365, 2020. Pubmed reference: 33230178. DOI: 10.1038/s41598-020-77032-y. | ||
Raj, K., Ellinwood, N.M., Giger, U. : | ||
An exonic insertion in the NAGLU gene causing Mucopolysaccharidosis IIIB in Schipperke dogs. Sci Rep 10:3170, 2020. Pubmed reference: 32081995. DOI: 10.1038/s41598-020-60121-3. | ||
Story, B.D., Miller, M.E., Bradbury, A.M., Million, E.D., Duan, D., Taghian, T., Faissler, D., Fernau, D., Beecy, S.J., Gray-Edwards, H.L. : | ||
Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci 7:80, 2020. Pubmed reference: 32219101. DOI: 10.3389/fvets.2020.00080. | ||
Switonski, M. : | ||
Impact of gene therapy for canine monogenic diseases on the progress of preclinical studies. J Appl Genet :, 2020. Pubmed reference: 32189222. DOI: 10.1007/s13353-020-00554-8. | ||
2011 | Ellinwood, N.M., Ausseil, J., Desmaris, N., Bigou, S., Liu, S., Jens, J.K., Snella, E.M., Mohammed, E.E., Thomson, C.B., Raoul, S., Joussemet, B., Roux, F., Chérel, Y., Lajat, Y., Piraud, M., Benchaouir, R., Hermening, S., Petry, H., Froissart, R., Tardieu, M., Ciron, C., Moullier, P., Parkes, J., Kline, K.L., Maire, I., Vanier, M.T., Heard, J.M., Colle, M.A. : | |
Safe, efficient, and reproducible gene therapy of the brain in the dog models of Sanfilippo and Hurler syndromes. Mol Ther 19:251-9, 2011. Pubmed reference: 21139569. DOI: 10.1038/mt.2010.265. | ||
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. |
Edit History
- Created by Frank Nicholas on 18 Nov 2009
- Changed by Frank Nicholas on 28 Sep 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 21 Sep 2012
- Changed by Frank Nicholas on 26 Sep 2017
- Changed by Frank Nicholas on 23 Jan 2018
- Changed by Frank Nicholas on 24 Feb 2020
- Changed by Imke Tammen2 on 11 Dec 2020