OMIA:001581-9685 : Curly coat, Devon rex in Felis catus |
Categories: Integument (skin) phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 608245 (gene) , 615896 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2010
Species-specific name: Devon rex
Species-specific symbol: re
Inheritance: Gandolfi et al. (2010) suggested that the allelic hierarchy is best represented as KRT71(+) > KRT71(hr) > KRT71(re), where + is wild-type, hr is Sphynx hairless and re is Devon rex.
Molecular basis: Gandolfi et al. (2010) showed that the Devon rex mutation and the Sphynx hairless mutation (OMIA 001583-9685) are both due to mutations in the KRT71 gene which encodes keratin 71: "An 81-bp deletion (c.1108-4_1184del), including the last 4 bp of intron 6 and the first 77 bp of exon 7, followed by a 8-bp insertion (c.1184_1185insAGTTGGAG) and a base insertion (c.1196insT), was found to be homozygous in the two Devon Rex cats".
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| KRT71 | keratin 71, type II | Felis catus | B4 | NC_058374.1 (78946430..78936910) | KRT71 | Homologene, Ensembl , NCBI gene |
Variants
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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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 380 | Curly coat, Devon rex | KRT71 | complex rearrangement | Naturally occurring variant | Felis_catus_9.0 | B4 | g.[81046358_81046359insA;81046370_81046371insCTCCAACT;81046371_81046451del] | c.[1108-4_1184del;1184_1185insAGTTGGAG;1196_1197insT] | NM_001195239.1; published as c.1108-4_1184del;c.1184_1185insAGTTGGAG;c.1196insT; variant causes a splicing variation | 2010 | 20953787 | Genomic position in Felis_catus_9.0 is based on information provided by Leslie Lyons and Reuben Buckley. |
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.
| 2010 | Gandolfi, B., Outerbridge, CA., Beresford, LG., Myers, JA., Pimentel, M., Alhaddad, H., Grahn, JC., Grahn, RA., Lyons, LA. : |
| The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71. Mamm Genome 21:509-15, 2010. Pubmed reference: 20953787 . DOI: 10.1007/s00335-010-9290-6. | |
| 1969 | Robinson, R. : |
| Devon rex - a third rexoid coat mutant in the cat. Genetica 40:597-599, 1969. |
Edit History
- Created by Frank Nicholas on 20 Jul 2011
- Changed by Frank Nicholas on 14 Sep 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 30 May 2014