OMIA 001318-9615 : Elliptocytosis in Canis lupus familiaris

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2009

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SPTB spectrin, beta, erythrocytic Canis lupus familiaris 8 NC_006590.3 (39300908..39156388) SPTB Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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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
mixed breed Elliptocytosis SPTB missense p.T2110M 2009 19228356

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.
2009 Di Terlizzi, R., Gallagher, PG., Mohandas, N., Steiner, LA., Dolce, KS., Guo, X., Wilkerson, MJ., Stockham, SL. :
Canine elliptocytosis due to a mutant beta-spectrin. Vet Clin Pathol 38:52-8, 2009. Pubmed reference: 19228356. DOI: 10.1111/j.1939-165X.2008.00092.x.
1999 Mills, J.N., Marsden, C.A. :
Presumed hereditary elliptocytosis in a dog Australian Veterinary Journal 77:651-652, 1999. Pubmed reference: 10590790.

Edit History


  • Created by Frank Nicholas on 17 Jun 2009
  • Changed by Frank Nicholas on 26 Sep 2011
  • Changed by Frank Nicholas on 12 Dec 2011