OMIA 001318-9615 : Elliptocytosis in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 616649 (trait) , 617948 (trait) , 182870 (gene)

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_051812.1 (39523986..39377314) SPTB 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.

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
37 Mixed breed Elliptocytosis SPTB missense Naturally occurring variant CanFam3.1 8 g.39170437G>A c.6119C>T p.(T2020M) NM_001220481.1; NP_001207410.1; published as c.6384C>T and p.(T2110M); coordinates in the table have been updated to a recent reference genome and / or transcript 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