OMIA 002139-9796 : Coat colour, Leopard Complex Spotting in Equus caballus

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Incompletely Dominant

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2013

Species-specific description: As summarised by Bellone et al. (2013): "Leopard complex spotting is a group of white spotting patterns in horses caused by an incompletely dominant gene (LP) . . . homozygotes (LP/LP) are also affected with congenital stationary night blindness". Thus, a single mutation is autosomal incompletely dominant for Leopard Complex/Appaloosa and autosomal recessive for stationary congenital night blindness (OMIA 001341-9796).

Molecular basis: Bellone et al. (2013) reported that a retroviral insertion in TRMP1 was complete associated with Leopard spotting in 511 horses from a range of breeds.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
TRPM1 transient receptor potential cation channel, subfamily M, member 1 Equus caballus 1 NC_009144.3 (109301575..109109527) TRPM1 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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
American Miniature Horse Appaloosa Australian Spotted Pony British Spotted Pony Knabstrupper Noriker Pony of the Americas Thoroughbred Stationary congenital night blindness & Leopard Complex/Appaloosa spotting TRPM1 insertion, gross (>20) EquCab2 1 g.108297929_108297930ins1378 "a 1378 bp retroviral LTR insertion in intron 1 of TRPM1" 2013 24167615

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.
2017 Druml, T., Grilz-Seger, G., Neuditschko, M., Neuhauser, B., Brem, G. :
Phenotypic and Genetic Analysis of the Leopard Complex Spotting in Noriker Horses. J Hered 108:505-514, 2017. Pubmed reference: 28453641. DOI: 10.1093/jhered/esx039.
2016 Holl, H.M., Brooks, S.A., Archer, S., Brown, K., Malvick, J., Penedo, M.C., Bellone, R.R. :
Variant in the RFWD3 gene associated with PATN1, a modifier of leopard complex spotting. Anim Genet 47:91-101, 2016. Pubmed reference: 26568529. DOI: 10.1111/age.12375.
2015 Ludwig, A., Reissmann, M., Benecke, N., Bellone, R., Sandoval-Castellanos, E., Cieslak, M., Fortes, G.G., Morales-Muñiz, A., Hofreiter, M., Pruvost, M. :
Twenty-five thousand years of fluctuating selection on leopard complex spotting and congenital night blindness in horses. Philos Trans R Soc Lond B Biol Sci 370:20130386, 2015. Pubmed reference: 25487337. DOI: 10.1098/rstb.2013.0386.
2013 Bellone, R.R., Holl, H., Setaluri, V., Devi, S., Maddodi, N., Archer, S., Sandmeyer, L., Ludwig, A., Foerster, D., Pruvost, M., Reissmann, M., Bortfeldt, R., Adelson, D.L., Lim, S.L., Nelson, J., Haase, B., Engensteiner, M., Leeb, T., Forsyth, G., Mienaltowski, M.J., Mahadevan, P., Hofreiter, M., Paijmans, J.L., Gonzalez-Fortes, G., Grahn, B., Brooks, S.A. :
Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horse. PLoS One 8:e78280, 2013. Pubmed reference: 24167615. DOI: 10.1371/journal.pone.0078280.
2012 Sandmeyer, L.S., Bellone, R.R., Archer, S., Bauer, B.S., Nelson, J., Forsyth, G., Grahn, B.H. :
Congenital stationary night blindness is associated with the leopard complex in the Miniature Horse. Vet Ophthalmol 15:18-22, 2012. Pubmed reference: 22051042. DOI: 10.1111/j.1463-5224.2011.00903.x.
2010 Bellone, RR., Forsyth, G., Leeb, T., Archer, S., Sigurdsson, S., Imsland, F., Mauceli, E., Engensteiner, M., Bailey, E., Sandmeyer, L., Grahn, B., Lindblad-Toh, K., Wade, CM. :
Fine-mapping and mutation analysis of TRPM1: a candidate gene for leopard complex (LP) spotting and congenital stationary night blindness in horses. Brief Funct Genomic Proteomic 9:193-207, 2010. Pubmed reference: 20353955. DOI: 10.1093/bfgp/elq002.
2007 Sandmeyer, LS., Breaux, CB., Archer, S., Grahn, BH. :
Clinical and electroretinographic characteristics of congenital stationary night blindness in the Appaloosa and the association with the leopard complex. Vet Ophthalmol 10:368-75, 2007. Pubmed reference: 17970998. DOI: 10.1111/j.1463-5224.2007.00572.x.
2004 Terry, RB., Archer, S., Brooks, S., Bernoco, D., Bailey, E. :
Assignment of the appaloosa coat colour gene (LP) to equine chromosome 1. Anim Genet 35:134-7, 2004. Pubmed reference: 15025575. DOI: 10.1111/j.1365-2052.2004.01113.x.
1990 Sponenberg, D.P., Carr, G., Simak, E., Schwink, K. :
The Inheritance of the Leopard Complex of Spotting Patterns in Horses Journal of Heredity 81:323-331, 1990. Pubmed reference: 2177073.

Edit History


  • Created by Frank Nicholas on 29 Jan 2018
  • Changed by Frank Nicholas on 29 Jan 2018
  • Changed by Frank Nicholas on 06 May 2019