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

See the equivalent entry at NCBI

Possible human homologue (MIM number): 608245

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: no

Key mutation known: yes

Year key mutation 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_018729.3 (81053411..81043895) KRT71 Homologene, Ensembl, NCBI gene

Variants

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Curly coat, Devon rex KRT71 complex rearrangement c.1108-4_1184del;c.1184_1185in This complex variant causes a slicing variation 2010 20953787

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