OMIA 001454-9615 : Coat colour, harlequin in Canis lupus familiaris

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Dominant

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2011

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
PSMB7 proteasome subunit beta 7 Canis lupus familiaris 9 NC_006591.3 (58529646..58593016) PSMB7 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
Great Dane Harlequin PSMB7 missense c.146T>G p.V6G 2011 21256207

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.
2011 Clark, LA., Tsai, KL., Starr, AN., Nowend, KL., Murphy, KE. :
A missense mutation in the 20S proteasome β2 subunit of Great Danes having harlequin coat patterning. Genomics 97:244-8, 2011. Pubmed reference: 21256207. DOI: 10.1016/j.ygeno.2011.01.003.
2008 Clark, LA., Starr, AN., Tsai, KL., Murphy, KE. :
Genome-wide linkage scan localizes the harlequin locus in the Great Dane to chromosome 9. Gene 418:49-52, 2008. Pubmed reference: 18513894. DOI: 10.1016/j.gene.2008.04.006.
1988 O'Sullivan, N., Robinson, R. :
Harlequin colour in the Great Dane dog. Genetica 78:215-8, 1988. Pubmed reference: 3270445.
1985 Sponenberg, D.P. :
Inheritance of the harlequin color in Great Dane dogs Journal of Heredity 76:224-225, 1985. Pubmed reference: 3998446.

Edit History


  • Created by Frank Nicholas on 12 Jul 2011
  • Changed by Frank Nicholas on 10 Aug 2011
  • Changed by Frank Nicholas on 26 Sep 2011
  • Changed by Frank Nicholas on 12 Dec 2011