Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. OMIA Variant IDĭNA coordinates not published associated with an atypical swirled pattern but is incompletely penetrant ‘acknowledgements’ or ‘verbal description’ fields in this table. These changes to genomic positions are not always reflected in the Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions
To proceed, the location and orientation of the variant sequence should be checked very carefully. WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing.Īnyone contemplating the use of any of these variants for DNA testing should examine critically the relevantĮvidence (especially in breeds other than the breed in which the variant was first described). To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column
Readers can re-sort on any column by clicking on the column header. The gene name "Taqpep" has been replaced by laeverin with symbol LVRN.īy default, variants are sorted chronologically by year of publication, to provide a historical perspective. Jackson (2013) provides a very informative summary of the results of Kaelin et al. (2012) reported three blotched tabby (Ta^b) alleles, namely S59X, D228N and W841X, in the gene named Transmembrane Aminopeptidase Q (Taqpep). The T139N allele is associated (P = 0.0017, Fisher’s exact test) with an atypical swirled pattern but is incompletely penetrant". A third Ta^b allele, D228N, was found to cosegregate with the blotched phenotype in a research colony. In feral cats, we observed homozygosity or compound heterozygosity for the Ta^b S59X or W841X alleles in 58 out of 58 (58/58) blotched animals, with no phenotypic distinction among the different genotypic classes, compared to 51/51 mackerel cats that carried 0 or 1 Ta^b alleles. This gene is expressed in developing felid skin, and its loss of function causes a loss of color pattern periodicity without obvious effects on other organ systems. We subsequently identified two additional variants in the same gene, S59X and D228N. (2012) reported that "most blotched cats carried a nonsense mutation, W841X. Using a slightly different nomenclature for tabby alleles, Kaelin et al. They named its peptide product Tabulin, to reflect its key role in tabby phenotypes. Sequencing cats of various tabby phenotypes revealed a range of causal mutations in the "new" gene, which the authors named Transmembrane Aminopeptidase Q (Taqpep). (2012) narrowed the hunt down to a 244kb region containing three coding sequences, one of which had not been described previously in the cat. The spotted phenotype appears to be due to the action of one or more modifying loci, as yet unmapped.īy conducting an association analysis with SNPs in the 5MB candidate region of the Tabby locus on chromosome FCAA1 (see Mapping section above), Kaelin et al. They also show that the T^a allele maps to a 3.8Mb region, now called the Ticked locus, on cat chromosome FCAB1, thereby refining the mapping result of Lyons et al. (2010) suggested calling this locus the tabby locus. A gene (not then identified) in a 5Mb region of cat chromosome FCAA1 accounts for the two main tabby alleles, namely mackerel (T^a) and blotched (t^b).
(2010) showed that at least three loci are involved in determining the tabby pattern. Subsequently, as described in the Mapping section of this page, three loci have been implicated and mapped.īy examining the segregation of pairs of tabby alleles in three pedigrees, Eizirik et al. Possibly relevant human trait(s) and/or gene(s) (MIM number): 610046Ĭlassical segregation studies by Robinson and others suggested that the tabby locus has four alleles that exist in a dominance hierarchy, namely non-tabby (unpatterned agouti, also called Abyssinian or ticked) T^a spotted tabby T^s mackerel tabby T^M blotched tabby t^b.
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