Border Collie
157 Border Collies in the atlas. Every number on this page has a source.
157 Border Collies in the Sniff Atlas. Population-genetic snapshot, Mendelian carrier frequencies from Donner 2023, and the data substrate's release version, sample sizes, and evidence tier on every claim.
In the atlas, the Border Collie clusters consistently as Border Collie (100% of the 157 dogs here). Genetic diversity is high (mean heterozygosity 0.3201), reflecting either a mixed-breed cluster or breeds with broad genetic backgrounds. At the trait loci, HMGA2 runs lower than average (10% here vs 56%); MC1R runs higher than the atlas average (100% here vs 62%). This is a densely populated region, many genetically similar dogs are sampled.
Mean heterozygosity is 0.320, notably high, indicates broad genetic background.
Closest genetic neighbors in the atlas: Australian Shepherd, Pembroke Welsh Corgi, Cardigan Welsh Corgi, Old English Sheepdog, and Australian Cattle Dog.
What the genome says about Border Collie
Computed from the 18,477 research dogs in the Atlas.
- Australian Shepherd6.96
- Pembroke Welsh Corgi8.73
- Cardigan Welsh Corgi9.21
- Old English Sheepdog10.59
- Australian Cattle Dog11.03
Frequency of the alternate allele in this breed at each locus's representative SNP.
| IGF1 | 75% |
| HMGA2 | 10% |
| SMAD2 | 70% |
| LCORL | 99% |
| STC2 | 93% |
| ADAMTS17 | 67% |
| FGF4·CFA18 | 75% |
| FGF4·CFA12 | 95% |
| RSPO2 | 40% |
| FGF5 | 85% |
| KRT71 | 81% |
| MC1R | 100% |
| MSRB3 | 90% |
| BMP3 | 59% |
| SMOC2 | 78% |
What does the genome say about how a Border Collie looks?
Border Collies look the way they do because of a small set of fixed and near-fixed morphology genes that, taken together, define the visible breed. Each translation below pairs the gene with the trait an owner actually sees, the breed's allele frequency at that locus, and a one-clause causal phrase.
Size and build
IGF1 sits at 75% for the small-body allele. IGF1 is the gene that sets dog body size from Chihuahua to Great Dane. Intermediate frequencies typically keep a breed in the mid-sized range rather than tipping toward the larger working forms.
HMGA2 is at 10%, leaving most of the size signal to other loci in the panel.
SMAD2 sits at 70% at the chromosome-7 height locus.
LCORL is near-fixed at 99%, the NCAPG/LCORL height locus that is one of the strongest single contributors to canine body size.
STC2 is near-fixed at 93%, modulating growth-axis signaling toward the breed's body-size set point.
ADAMTS17 sits at 67%. ADAMTS17 is a body-size locus also linked to lens disorders.
Leg length
The FGF4 retrogene on chromosome 18 sits at 75%. This is the leg-length variant. The intermediate frequency means some dogs in this breed carry the short-legged allele and some do not.
The FGF4 retrogene on chromosome 12 is near-fixed at 95%, the chondrodystrophic variant associated with intervertebral disc disease risk in breeds that carry it.
Coat type, length, and color
RSPO2 sits at 40% for the furnishings variant. Furnishings (the eyebrow-and-mustache pattern seen in Schnauzers and Wheaten Terriers) vary across the population at this intermediate frequency, and visible expression depends on the specific allele combination each dog carries.
FGF5 is at 85% for the long-coat variant, which is why the breed's coat sits where it does on the long end of the dog coat-length spectrum.
KRT71 sits at 81% for the wavy/curly variant. Coat curl varies across individuals at this intermediate frequency, and visible expression is also influenced by modifier loci.
MC1R is at 100% at the representative SNP. MC1R controls the switch between red-to-gold and black-to-brown pigment, with the e/e homozygous genotype producing the gold-to-red spectrum by blocking eumelanin (black and brown pigment).
Ears
MSRB3 is at 90% for the drop-ear allele, the genetic basis of the breed's signature dropped ear set.
Skull shape
BMP3 sits at 59%, contributing to the breed's moderate, mesaticephalic head shape rather than the extreme brachycephalic form.
SMOC2 sits at 78%, contributing to the breed's moderate head shape.
What genetic diseases do Border Collies carry?
From a panel of 250 Mendelian-disease variants screened in 1,054,293 dogs (Donner et al. 2023), Border Collies carry 29 of them at observable frequency. Carrier frequency is not clinical risk. Most recessive variants require two copies for disease expression; many dominant variants show incomplete penetrance. Read this as a population fingerprint of what's in the gene pool, not a per-dog prediction.
Where every number on this page came from.
This page draws on three primary data sources. Carrier frequencies for the Mendelian section come from Donner et al. 2023 (CC-BY-4.0). We grade these data at evidence Limited because the cohort is a direct-to-consumer ascertainment, which biases toward owners who chose to test their dogs. The panel also uses tag-SNP proxies for some variants rather than direct causal-variant assays. Limited is a study-design grade, not a quality grade: the Donner cohort is the largest open canine-genotype dataset in existence and we are grateful for it. We rate the confounding MEDIUM.
Population-genetic dimensions (heterozygosity, intra-breed PCA distance, nearest neighbors, trait-locus frequencies) come from CanVAS (Brundage 2026), harmonized through the Sniff Atlas. The exact release date and verification commit are pinned at the bottom of the page so a researcher can trace a number back to a specific snapshot. The disease-gene-variant graph comes from OMIA (Online Mendelian Inheritance in Animals; Nicholas, Tammen, and the Sydney Informatics Hub at the Sydney School of Veterinary Science, The University of Sydney; retrieved April 2026, DOI 10.25910/2AMR-PV70).
What this page does not yet have. Inheritance modes and per-disease penetrance evidence from Donner 2023 are now in the structured data for every variant the panel covers. Mondo, OMIM, Ensembl, and HGNC cross-references on gene pages remain pending — they arrive in December 2026 alongside the imputed 9.67M-variant CanVAS dataset via the OMIA SQL dump absorption. Until then, gene IDs carry NCBI Gene and OMIA phene URLs only; the wider human-homolog and disease-ontology cross-reference set fills in with that release.
How to cite this page. The computed dimensions on this page are derived from the open Sniff Atlas v1.0.1 (Gehring 2026, doi:10.5281/zenodo.20566358, CC-BY 4.0). Full citation formats including BibTeX, RIS, and CITATION.cff at sniff.world/cite.
We have 157 border collies. We do not have yours.
Every border collie added sharpens the breed's genetic neighborhood. Enrollment is free. The data stays open. The star is permanent.
- Donner J, Anderson H, Davison S, et al. (2023). Frequency and distribution of 152 genetic disease variants in over 1,000,000 mixed-breed and purebred dogs. PLOS Genetics 19(2):e1010651. doi:10.1371/journal.pgen.1010651
- Brundage J, et al. (2026). CanVAS: a harmonized canine variant atlas. bioRxiv. doi:10.64898/2026.04.13.718238
- Nicholas, F.W., Tammen, I., & Sydney Informatics Hub. (2026). Online Mendelian Inheritance in Animals (OMIA) [dataset]. The University of Sydney. https://omia.org. doi:10.25910/2AMR-PV70 (retrieved April 2026).