OMIA:000963-9823 : Syndactyly in Sus scrofa (pig)
Categories: Limbs / fins / digit / tail phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: no
Key variant known: no
Cross-species summary: Fusion of the claws (cleats or digits). Occurs in one, two, three or (rarely) four legs.
Species-specific description: Facioli et al. (2021): "The swine mulefoot (SM) is a rare condition characterized by a non-cloven hoof due to the partial or total fusion of the phalanges. ... The swine mulefoot is a well-adapted animal to be raised in outdoor systems ... . In addition to that, animals with this characteristic tend to have higher lard content in their carcass. Currently, the mulefoot phenotype is an undesirable trait for industrial-scale swine production as this prioritizes intensive breeding systems with animal confinement on cement floors, and now those animals are at risk of extinction ..."
Inheritance: Facioli et al. (2021) "An experimental population was produced using a half-sib mating where the [Piau crossbred] male had the mulefoot phenotype and the females (n = 6) had cloven hoofs. The cross resulted in 27 (47%) animals with the mulefoot characteristic and 30 (53%) normal animals, indicating the possible dominant gene action."
Mapping: Facioli et al. (2021) "aimed to characterize the association between SNP and the mulefoot phenotype using a Genome-Wide Association Study (GWAS). ... . Animals were further genotyped using the Illumina PorcineSNP50k BeadChip, and SNPs were tested for associations. Twenty-nine SNPs located on the SSC15, SSC4, and SSCX were associated with the mulefoot phenotype (p-value <5 × 10-5). Six markers were found in the intronic regions of VWC2L, CATIP, PDK3, PCYT1B, and POLA1 genes. The marker rs81277626, on SSC15:116,886,110 bp, is located in the Von Willebrand Factor C Domain (VWC2L), a possible functional candidate gene. The VWC2L is part of a biological process involved with the bone morphogenetic protein (BMP) signaling pathway, previously associated with syndactyly in other species."
Have human generated variants been created, e.g. through genetic engineering and gene editing
Casco de Mula, Colombia (Pig) (VBO_0012556),
Mulefoot, United States of America (Pig) (VBO_0013230),
Piau, Brazil (Pig) (VBO_0012726).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
Cite this entry
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||Facioli, F.L., da Silva, A.N., Dos Santos, E.D., de Camargo, J., Warpechowski, M.B., da Oliveira Cruz, J., Lof, L.M., Zanella, R. :|
|From Mendel laws to whole genetic association study to decipher the swine mulefoot phenotype. Res Vet Sci 143:58-65, 2021. Pubmed reference: 34974356. DOI: 10.1016/j.rvsc.2021.12.009.|
|2016||Justolin, P.L., Rahal, S.C., Agostinho, F.S., Mamprim, M.J., Teixeira, C.R., Doiche, D.P., Babicsak, V.R. :|
|Radiographic and computed tomographic evaluation and gait analysis of Brazilian minipigs with syndactyly. Am J Vet Res 77:976-982, 2016. Pubmed reference: 27580109. DOI: 10.2460/ajvr.77.9.976.|
|2013||Madgwick, R., Forest, V., Beglane, F. :|
|Syndactyly in pigs: A review of previous research and the presentation of eight archaeological specimens. Int. J. Osteoarchaeol. 23:395-409, 2013.|
|1982||Ollivier, L., Sellier, P. :|
|Pig genetics: a review Annales de Genetique et de Selection Animale 14:481-544, 1982.|
|1972||Leipold, H.W., Dennis, S.M. :|
|Syndactyly in a pig Cornell Veterinarian 62:269-273, 1972. Pubmed reference: 4336933.|
|1953||Leinati, L., Telesforo, B. :|
|[Observations on a certain variety of malformation of the foot (Syndactylia) in pigs of the 'Casco de Mula' breed (Uniungular pigs) in Colombia] Proceedings of the Fifteenth International Veterinary Congress, Stockholm 2:907-913, 1953.|
|Leinati, L., Telesforo, B. :|
|[Observations on a certain variety of malformation of the foot (Syndactylia) in pigs of the 'Casco de Mula' breed (Uniungular pigs) in Colombia]: bibliography and discussion Proceedings of the Fifteenth International Veterinary Congress, Stockholm :359-360, 1953.|
|1921||Detlefsen, J.A., Carmichael, W.J. :|
|Inheritance of syndactylism, black and dilution in swine Journal of Agricultural Research 20:595-604, 1921.|
|1908||Simpson, Q.I., Simpson, J.P. :|
|Genetics in swine hybrids Science 27:941 only, 1908.|
|1889||Auld, R.C. :|
|Some cases of solid-hoofed hogs and two-toed horses American Naturalist 23:447-449, 1889.|
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Imke Tammen2 on 14 Jan 2022