OMIA 001949-9685 : Hypotrichosis, with short life expectancy in Felis catus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|FOXN1||forkhead box N1||Felis catus||E1||NC_058381.1 (18255680..18227070)||FOXN1||Homologene, Ensembl, NCBI gene|
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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|
|1319||Birman||Hypotrichosis, with short life expectancy||FOXN1||deletion, small (<=20)||Naturally occurring variant||Felis_catus_9.0||E1||g.18255880_18255883del||c.1030_1033del||p.L344Gfs||XM_019817475.2; XP_019673034.1; published as c.1030_1033delCTGT; predicted to cause a frameshift leading to a premature stop codon at position 547||2015||25781316||Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.|
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.
|2015||Abitbol, M., Bossé, P., Thomas, A., Tiret, L. :|
|A deletion in FOXN1 is associated with a syndrome characterized by congenital hypotrichosis and short life expectancy in Birman cats. PLoS One 10:e0120668, 2015. Pubmed reference: 25781316. DOI: 10.1371/journal.pone.0120668.|
|1994||Casal, M.L., Straumann, U., Sigg, C., Arnold, S., Rüsch, P. :|
|Congenital hypotrichosis with thymic aplasia in nine Birman kittens. Journal of the American Animal Hospital Association 30:600-602, 1994.|
|1988||Bourdeau, P., Leonetti, D., Maroille, J-M., Mialot, M. :|
|Generalized hereditary alopecia of the cat: about a case observed in a Sacred Burmese Cat. Rec Med Vet 164:17-24, 1988.|
|1984||Hendy-Ibbs, PM. :|
|Hairless cats in Great Britain. J Hered 75:506-7, 1984. Pubmed reference: 6512243.|
- Created by Frank Nicholas on 24 Mar 2015
- Changed by Frank Nicholas on 24 Mar 2015