OMIA 001498-9615 : Improper coat in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s) (MIM number): 610575 (gene)

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2010

Species-specific symbol: IC

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
RSPO2 R-spondin 2 Canis lupus familiaris 13 NC_051817.1 (9022401..8873544) RSPO2 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
707 Portugese water dog Improper coat RSPO2 insertion, gross (>20) Naturally occurring variant 13 "167 bp 3' UTR insertion in RSPO2" 2010 20562213

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.
2017 Parker, H.G., Harris, A., Dreger, D.L., Davis, B.W., Ostrander, E.A. :
The bald and the beautiful: hairlessness in domestic dog breeds. Philos Trans R Soc Lond B Biol Sci 372:20150488, 2017. Pubmed reference: 27994129. DOI: 10.1098/rstb.2015.0488.
2010 Parker, HG., Chase, K., Cadieu, E., Lark, KG., Ostrander, EA. :
An insertion in the RSPO2 gene correlates with improper coat in the Portuguese water dog. J Hered 101:612-7, 2010. Pubmed reference: 20562213. DOI: 10.1093/jhered/esq068.

Edit History


  • Created by Frank Nicholas on 22 Aug 2010
  • Changed by Frank Nicholas on 28 Sep 2011
  • Changed by Frank Nicholas on 12 Dec 2011