OMIA 001138-9615 : Hypocatalasia in Canis lupus familiaris
Donner et al. (2016) reported heterozygosity for the same c.979G>A (p.Ala327Thr) variant in one American Foxhound.Breeds: American Foxhound, Beagle. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CAT||catalase||Canis lupus familiaris||18||NC_051822.1 (34033703..33993703)||CAT||Homologene, Ensembl, NCBI gene|
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|
|49||American Foxhound Beagle||Hypocatalasia||CAT||missense||Naturally occurring variant||CanFam3.1||18||g.33397548C>T||c.979G>A||p.(A327T)||2000||11137458||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
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.
|2016||Donner, J., Kaukonen, M., Anderson, H., Möller, F., Kyöstilä, K., Sankari, S., Hytönen, M., Giger, U., Lohi, H. :|
|Genetic panel screening of nearly 100 mutations reveals new insights into the breed distribution of risk variants for canine hereditary disorders. PLoS One 11:e0161005, 2016. Pubmed reference: 27525650. DOI: 10.1371/journal.pone.0161005.|
|2008||Ogata, M., Wang, D.H., Ogino, K. :|
|Mammalian acatalasemia: the perspectives of bioinformatics and genetic toxicology. Acta Med Okayama 62:345-61, 2008. Pubmed reference: 19122680.|
|2000||Nakamura, K., Watanabe, M., Sasaki, Y., Ikeda, T. :|
|Purification and characterization of liver catalase in acatalasemic beagle dog: comparison with normal dog liver catalase. Int J Biochem Cell Biol 32:89-98, 2000. Pubmed reference: 10661897.|
|Nakamura, K., Watanabe, M., Takanaka, K., Sasaki, Y., Ikeda, T. :|
|cDNA cloning of mutant catalase in acatalasemic beagle dog: single nucleotide substitution leading to thermal-instability and enhanced proteolysis of mutant enzyme International Journal of Biochemistry & Cell Biology 32:1183-1193, 2000. Pubmed reference: 11137458.|
|1999||Nakamura, K., Watanabe, M., Ikeda, T., Sasaki, Y., Matsunuma, N. :|
|Tissue and organ expression of catalase in acatalasemic beagle dogs. Exp Anim 48:229-34, 1999. Pubmed reference: 10591001.|
|1982||[No authors listed] :|
|Catalase activity of erythrocytes from beagle dog: an appearance of hereditary acatalasemia Acta Histochem. Cytochem. 15:685–690, 1982.|
|1967||Feinstein, R.N., Braun, J.T., Howard, J.B. :|
|The dog as an example of acatalasemia or hypocatalasemia. ANL-7409. ANL Rep :122, 1967. Pubmed reference: 5308206.|
- Created by Frank Nicholas on 12 Sep 2005
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 15 Sep 2012
- Changed by Frank Nicholas on 21 Aug 2016