OMIA:001498-9615 : Improper coat in Canis lupus familiaris (dog) |
Categories: Integument (skin) phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 610575 (gene)
Single-gene trait/disorder: yes
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2010
Species-specific symbol: IC
Breed:
Portuguese Water Dog (Dog) (VBO_0201077).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).
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 | Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
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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 | Variant Type | Variant Effect | Source of Genetic Variant | Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 707 | Portuguese Water Dog (Dog) | Improper coat | RSPO2 | insertion, gross (>20) | Naturally occurring variant | Not currently ISAG evaluated | 13 | "167 bp 3' UTR insertion in RSPO2" | 2010 | 20562213 |
* Variant pathogenicity for single gene diseases as evaluated by an expert panel of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization Standing Committee
Contact us
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:001498-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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
- Changed by Imke Tammen2 on 18 Jun 2024