OMIA 001583-9685 : Hypotrichosis, with whiskers short and curled in Felis catus

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2010

Species-specific name: Sphynx hairless; Atrichia

Species-specific symbol: hi

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 this hypotrichosis mutation (also known as Sphynx hairless) and the Devon rex Curly mutation (OMIA 001581) are both due to mutations in the KRT71 gene which encodes keratin 71.

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
Sphynx hairless KRT71 splicing Felis_catus_6.2 B4 g.81502136G>A c.816+1G>A 2010 20953787 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

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.
1984 Hendy-Ibbs, PM. :
Hairless cats in Great Britain. J Hered 75:506-7, 1984. Pubmed reference: 6512243.
1973 Robinson, R. :
The Canadian hairless or Sphinx cat. J Hered 64:47-9, 1973. Pubmed reference: 4698915.
1937 Sternberger, H. :
A "cat-dog" from North Carolina: hairless gene or "maternal impression"? Journal of Heredity 28:115-116 , 1937.
1934 Carpentier, C.J. :
Un chat nu Rev. Zootech 10:298-300, 1934.
1933 Letard, E. :
La naissance et la disparation d'une mutation au sujet d'un couple de chats nus Rev. Vet. J. Med. Vet. 85:545-552, 1933.

Edit History


  • Created by Frank Nicholas on 20 Jul 2011
  • Changed by Frank Nicholas on 07 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 18 Jun 2013