OMIA 001581-9685 : Curly coat, Devon rex in Felis catus

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 608245 (gene) , 615896 (trait)

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