OMIA:001498-9615 : Improper coat in Canis lupus familiaris
Categories: Integument (skin) phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 610575 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2010
Species-specific symbol: IC
|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|
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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|
Cite this entry
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.|
- Created by Frank Nicholas on 22 Aug 2010
- Changed by Frank Nicholas on 28 Sep 2011
- Changed by Frank Nicholas on 12 Dec 2011