OMIA:001737-9685 : Coat colour, white spotting, KIT-related in Felis catus (domestic cat) |
In other species: dog , ass (donkey) , Arabian camel , taurine cattle , goat , water buffalo
Categories: Pigmentation phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 172800 (trait) , 164920 (gene)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal co-dominant
Disease-related: no
Key variant known: yes
Year key variant first reported: 2014
Cross-species summary: Variable degree of white spotting ranging from tiny white spots up to completely white animals. The absence of pigment is caused by the absence of skin melanocytes ("leucism, leucistic"), not by failure in the biochemical reactions required for pigment synthesis.
Species-specific name: Spotting and salmiak
Species-specific symbol: WS and wsal
Species-specific description: see also "OMIA 000214-9685 : Coat colour, white spotting in Felis catus"
Inheritance: White spotting has an autosomal co-domiannt mode of inheritance, salmiak appears to have a recessive mode of inheritance.
Mapping: Cooper et al. (2006) reported that this locus maps near to KIT on FCA B1.
Molecular basis:
David et al. (2014) reported the causal mutation of white spotting to be an insertion of an entire feline endogenous retrovirus (FERV1) into intron 1 of the KIT gene. David et al. (2014) identified in the same study that a 617bp insertion of a long terminal repeat (LTR) of the feline endogenous retrovirus (FERV1) is associated with domiant white - see OMIA 000209-9685 : Coat colour, dominant white in Felis catus’ for further detail. Frischknecht et al. (2015) confirmed the causal mutation for white spotting.
Anderson et al. (2024) report a novel coat colour phenotype in the Finnish domestic cat population and named the phenotype salmiak: "Whole-genome sequencing on two salmiak-colored cats was conducted to search for candidate causal variants in the KIT gene. Despite a lack of coding variants, visual inspection of the short read alignments revealed a large ~95 kb deletion located ~65 kb downstream of the KIT gene in the salmiak cats. Additional PCR genotyping of 180 domestic cats and three salmiak-colored cats confirmed the homozygous derived variant genotype fully concordant with the salmiak phenotype."
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| KIT | v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog | Felis catus | B1 | NC_058371.1 (161389917..161303938) | KIT | Homologene, Ensembl , NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending
order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column
headers.
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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1695 | Coat colour, salmiak | KIT | w^sal | deletion, gross (>20) | Naturally occurring variant | Felis_catus 9.0 | B1 | NC_018726.3:g.163792100_163887091del | a novel 94 991 bp deletion in the 65875 bp downstream region of the KIT gene | 2024 | 38721753 | |||||
| 732 | Coat colour, white spotting, KIT-related | KIT | S | insertion, gross (>20) | Naturally occurring variant | Felis_catus_9.0 | B1 | g.164038110_164038111insN[7125] | "an insertion of an entire feline endogenous retrovirus (FERV1) into intron 1 of the KIT gene." | 2014 | 25085922 | Genomic position in Felis_catus_9.0 is based on information provided by Leslie Lyons and Reuben Buckley. |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:001737-9685: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
| 2024 | Anderson, H., Salonen, M., Toivola, S., Blades, M., Lyons, L.A., Forman, O.P., Hytönen, M.K., Lohi, H. : |
| A new Finnish flavor of feline coat coloration, "salmiak," is associated with a 95-kb deletion downstream of the KIT gene. Anim Genet 55:676-680, 2024. Pubmed reference: 38721753. DOI: 10.1111/age.13438. | |
| 2023 | Awazu, A., Takemoto, D., Watanabe, K., Sakamoto, N. : |
| Possibilities of skin coat color-dependent risks and risk factors of squamous cell carcinoma and deafness of domestic cats inferred via RNA-seq data. Genes Cells 28:893-905, 2023. Pubmed reference: 37864512. DOI: 10.1111/gtc.13076. | |
| 2022 | Anderson, H., Davison, S., Lytle, K.M., Honkanen, L., Freyer, J., Mathlin, J., Kyöstilä, K., Inman, L., Louviere, A., Chodroff Foran, R., Forman, O.P., Lohi, H., Donner, J. : |
| Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats. PLoS Genet 18:e1009804, 2022. Pubmed reference: 35709088. DOI: 10.1371/journal.pgen.1009804. | |
| Górska, A., Drobik-Czwarno, W., Górska, A., Bryś, J. : | |
| Genetic determination of the amount of white spotting: A case study in Siberian cats. Genes (Basel) 13:1006, 2022. Pubmed reference: 35741768. DOI: 10.3390/genes13061006. | |
| 2021 | Rodney, A.R., Buckley, R.M., Fulton, R.S., Fronick, C., Richmond, T., Helps, C.R., Pantke, P., Trent, D.J., Vernau, K.M., Munday, J.S., Lewin, A.C., Middleton, R., Lyons, L.A., Warren, W.C. : |
| A domestic cat whole exome sequencing resource for trait discovery. Sci Rep 11:7159, 2021. Pubmed reference: 33785770. DOI: 10.1038/s41598-021-86200-7. | |
| 2015 | Frischknecht, M., Jagannathan, V., Leeb, T. : |
| Whole genome sequencing confirms KIT insertions in a white cat. Anim Genet 46:98, 2015. Pubmed reference: 25515300. DOI: 10.1111/age.12246. | |
| 2014 | David, V.A., Menotti-Raymond, M., Wallace, A.C., Roelke, M., Kehler, J., Leighty, R., Eizirik, E., Hannah, S.S., Nelson, G., Schäffer, A.A., Connelly, C.J., O'Brien, S.J., Ryugo, D.K. : |
| Endogenous retrovirus insertion in the KIT oncogene determines white and white spotting in domestic cats. G3 (Bethesda) 4:1881-91, 2014. Pubmed reference: 25085922. DOI: 10.1534/g3.114.013425. | |
| 2006 | Cooper, MP., Fretwell, N., Bailey, SJ., Lyons, LA. : |
| White spotting in the domestic cat (Felis catus) maps near KIT on feline chromosome B1. Anim Genet 37:163-5, 2006. Pubmed reference: 16573531. DOI: 10.1111/j.1365-2052.2005.01389.x. | |
| 2000 | Christensen, A.C. : |
| Cats as an aid to teaching genetics. Genetics 155:999-1004, 2000. Pubmed reference: 10880464. DOI: 10.1093/genetics/155.3.999. | |
| 1987 | Wagner, A., Wolsan, M. : |
| Pelage mutant allele frequencies in domestic cat populations of Poland. J Hered 78:197-200, 1987. Pubmed reference: 3611716. DOI: 10.1093/oxfordjournals.jhered.a110356. | |
| 1977 | Davis, BK., Davis, BP. : |
| Allele frequencies in a cat population in Budapest. J Hered 68:31-4, 1977. Pubmed reference: 864231. DOI: 10.1093/oxfordjournals.jhered.a108768. | |
| 1928 | Kuhn, A, Kroning, F. : |
| Uber die Verebung der Weisszeichnung bei der Hauskatze. Zuchtungskunde 3:448-454, 1928. | |
| 1919 | Whiting, P.W. : |
| Inheritance of white spotting and other colour characteristics in cats American Naturalist 53:473-482, 1919. | |
| 1884 | Bell, A.G. : |
| Deafness in white cats, and statistics of deafness and epilepsy in America. Science 3:243-4, 1884. Pubmed reference: 17808809. DOI: 10.1126/science.ns-3.56.243-a. | |
| 1883 | Tait, L. : |
| Notes on deafness in white cats. Nature 29:164 only, 1883. DOI: 10.1038/029164a0. | |
| 1873 | Tait, L. : |
| Note on a polydactylous cat from Cookham-Dean. Nature 7:323 only, 1873. DOI: 10.1038/007323b0. |
Edit History
- Created by Frank Nicholas on 14 Mar 2017
- Changed by Frank Nicholas on 15 May 2020
- Changed by Imke Tammen2 on 08 Apr 2022
- Changed by Imke Tammen2 on 28 Nov 2022
- Changed by Imke Tammen2 on 10 Nov 2023
- Changed by Imke Tammen2 on 12 May 2024
- Changed by Imke Tammen2 on 21 Jun 2024