OMIA 001342-8790 : Mucopolysaccharidosis IIIB in Dromaius novaehollandiae
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|NAGLU||Dromaius novaehollandiae||-||no genomic information (-..-)||NAGLU||Ensembl|
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||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|
|Mucopolysaccharidosis IIIB||NAGLU||deletion, small (<=20)||Naturally occurring variant||c.1098_1099delGG||2001||11414757|
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||Genger, S.C., Mizukami, K., Martin, M.P., Applegate, J.R., Barnes, H.J., Giger, U. :|
|Mucopolysaccharidosis IIIB (Sanfilippo syndrome B) in a commercial emu (Dromaius novaehollandiae) flock. Avian Pathol 47:100-107, 2018. Pubmed reference: 28911234. DOI: 10.1080/03079457.2017.1380293.|
|2015||Palmieri, C., Giger, U., Wang, P., Pizarro, M., Shivaprasad, H.L. :|
|Pathological and biochemical studies of mucopolysaccharidosis type IIIB (Sanfilippo syndrome type B) in juvenile emus (Dromaius novaehollandiae). Vet Pathol 52:160-9, 2015. Pubmed reference: 24723233. DOI: 10.1177/0300985814529314.|
|2001||Aronovich, E.L., Johnston, J.M., Wang, P., Giger, U., Whitley, C.B. :|
|Molecular basis of mucopolysaccharidosis type IIIB in emu (Dromaius novaehollandiae): An avian model of Sanfilippo syndrome type B Genomics 74:299-305, 2001. Pubmed reference: 11414757. DOI: 10.1006/geno.2001.6552.|
- Created by Frank Nicholas on 29 Nov 2005
- Changed by Frank Nicholas on 12 Oct 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 22 Mar 2012
- Changed by Frank Nicholas on 26 Sep 2017
- Changed by Frank Nicholas on 13 Aug 2018