Shetland Pony (Horse) — Coat colour, Leopard Complex Spotting (hereditary; OMIA-verified breed predisposition)

Shetland Pony (Horse) — Coat colour, Leopard Complex Spotting (hereditary; OMIA-verified breed predisposition)

Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.

Claims

• Breed: Shetland Pony (Horse)
• Disorder:
• Mode of inheritance: Autosomal incomplete dominant
• Summary: 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 (a href=https://omia.org/OMIA001341/OMIA:001341-9796/a).
• Defect: yes

Associated gene(s)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• Gene: Entrez Gene ID 4161661 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: 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.

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• 1990. The Inheritance of the Leopard Complex of Spotting Patterns in Horses. J Hered — PubMed:PMID2177073 | DOI:10.1093/oxfordjournals.jhered.a110997 — OMIA Phene_Article / Article
• 2004. Assignment of the appaloosa coat colour gene (LP) to equine chromosome 1. Anim Genet — PubMed:PMID15025575 | DOI:10.1111/j.1365-2052.2004.01113.x — OMIA Phene_Article / Article
• 2007. Clinical and electroretinographic characteristics of congenital stationary night blindness in the Appaloosa and the association with the leopard complex. Vet Ophthalmol — PubMed:PMID17970998 | DOI:10.1111/j.1463-5224.2007.00572.x — OMIA Phene_Article / Article
• 2010. 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 — PubMed:PMID20353955 | DOI:10.1093/bfgp/elq002 — OMIA Phene_Article / Article
• 2012. Congenital stationary night blindness is associated with the leopard complex in the Miniature Horse. Vet Ophthalmol — PubMed:PMID22051042 | DOI:10.1111/j.1463-5224.2011.00903.x — OMIA Phene_Article / Article
• 2013. Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horse. PLoS One — PubMed:PMID24167615 | DOI:10.1371/journal.pone.0078280 — OMIA Phene_Article / Article
• 2016. Variant in the RFWD3 gene associated with PATN1, a modifier of leopard complex spotting. Anim Genet — PubMed:PMID26568529 | DOI:10.1111/age.12375 — OMIA Phene_Article / Article
• 2017. Phenotypic and genetic analysis of the leopard complex spotting in Noriker horses. J Hered — PubMed:PMID28453641 | DOI:10.1093/jhered/esx039 — OMIA Phene_Article / Article
• 2015. 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 — PubMed:PMID25487337 | DOI:10.1098/rstb.2013.0386 — OMIA Phene_Article / Article
• 2019. Analysis of ROH patterns in the Noriker horse breed reveals signatures of selection for coat color and body size. Anim Genet — PubMed:PMID31199540 | DOI:10.1111/age.12797 — OMIA Phene_Article / Article
• 2021. Review: Balancing selection for deleterious alleles in livestock. Front Genet — PubMed:PMID34925454 | DOI:10.3389/fgene.2021.761728 — OMIA Phene_Article / Article
• 2024. Spotting the pattern: A review on white coat color in the domestic horse. Animals (Basel) — PubMed:PMID38338094 | DOI:10.3390/ani14030451 — OMIA Phene_Article / Article
• (2 additional references in OMIA)

Comparative medicine (human OMIM)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• OMIM:613216 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:603576 (type: gene) — OMIA Group_OMIM (via OMIA_ID)