OMIA:001737-9685 : Coat colour, white spotting, KIT-related in Felis catus
In other species: dog , ass , Arabian camel , cattle , goat
Categories: Pigmentation phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 172800 (trait) , 164920 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal co-dominant
Considered a defect: 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"), not by failure in the biochemical reactions required for pigment synthesis.
Species-specific description: see also "OMIA 000214-9685 : Coat colour, white spotting in Felis catus"
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.
|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|
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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|
|732||Coat colour, white spotting, KIT-related||KIT||insertion, gross (>20)||Naturally occurring variant||Felis_catus_9.0||B1||g.164038110_164038111insN||"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.|
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.
|2022||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 .|
|1987||Wagner, A., Wolsan, M. :|
|Pelage mutant allele frequencies in domestic cat populations of Poland. J Hered 78:197-200, 1987. Pubmed reference: 3611716 .|
|1977||Davis, BK., Davis, BP. :|
|Allele frequencies in a cat population in Budapest. J Hered 68:31-4, 1977. Pubmed reference: 864231 .|
|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 .|
- 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