OMIA 001737-9685 : Coat colour, white spotting, KIT-related in Felis catus

In other species: dog , ass , Arabian camel , cattle , goat

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 172800 (trait) , 164920 (gene)

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.

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.

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 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[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.

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.
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 der Verebung der Weisezchung 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