OMIA:002306-9823 : Fecundity, BMP15-related in Sus scrofa (pig)

In other species: goat , sheep

Categories: Reproductive system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 300247 (gene) , 300510 (trait)

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2021

Mapping: Flossmann et al. (2021): "A case-control GWAS involving Illumina porcine SNP60 BeadChip-called genotypes of 17 gilts with atypically small vulvae and 1818 control animals (fertile German Landrace sows) identified a significantly associated region on the X-chromosome (P = 8.81 × 10- 43)."

Molecular basis: Flossmann et al. (2021): "Inspection of whole-genome sequencing data in the critical area allowed us to pinpoint a likely causal variant in the form of a nonsense mutation of bone morphogenetic protein-15 (BMP15; Sscrofa11.1_X:g.44618787C>T, BMP15:p.R212X)"

Clinical features: Flossmann et al. (2021): "Homozygous gilts exhibit underdeveloped, most likely not functional ovaries and are not fertile. Male carriers do not seem to manifest defects. Heterozygous sows produce 0.41±0.02 (P=4.5 × 10-83) piglets more than wildtype animals. However, the mutant allele's positive effect on litter size accompanies a negative impact on lean meat growth."

Prevalence: Flossmann et al. (2021): "The mutant allele occurs at a frequency of 6.2% in the German Landrace breeding population. . . . In addition to the sire of affected gilts, two German Landrace boars and one German Landrace sow were carriers of the nonsense-mutation . . . . None of the Piétrain pigs carried the mutation."

Control: Flossmann et al. (2021) "advise eradicating the mutant allele from the German Landrace breeding population since the adverse effects on the lean meat growth outweigh the larger litter size in heterozygous sows."

Breed: German Landrace (Pig) (VBO_0001138).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
BMP15 bone morphogenetic protein 15 Sus scrofa X NC_010461.5 (44613122..44620575) BMP15 Homologene, Ensembl , NCBI gene


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 Year Published PubMed ID(s) Acknowledgements
1281 German Landrace (Pig) Infertility and increased litter size BMP15 nonsense (stop-gain) Naturally occurring variant Sscrofa11.1 X g.44618787C>T p.(R212*) "NP_001005155.2:p.R212X" (Flossmann et al., 2021) 2021 33413103

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2021). OMIA:002306-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.

2023 Jiao, Y., Jiang, T., Lin, Q., Guo, J., Bei, C., Cong, P., Mo, D., Liu, X., Chen, Y., He, Z. :
Molecular characterization of the follicular development of BMP15-edited pigs. Reproduction , 2023. Pubmed reference: 37561570. DOI: 10.1530/REP-23-0034.
2021 Flossmann, G., Wurmser, C., Pausch, H., Tenghe, A., Dodenhoff, J., Dahinten, G., Götz, K.U., Russ, I., Fries, R. :
A nonsense mutation of bone morphogenetic protein-15 (BMP15) causes both infertility and increased litter size in pigs. BMC Genomics 22:38, 2021. Pubmed reference: 33413103. DOI: 10.1186/s12864-020-07343-x.
2017 Min, W., Xuan, S., Xiang, H., Xiaofeng, L., Yufeng, Q., Xiaohong, L., Yaosheng, C., Zuyong, H. :
Improving gene targeting efficiency on the porcine BMP15 gene mediated by CRISPR/Cas9 by using the RGS surrogate reporter system. Yi Chuan 39:48-55, 2017. Pubmed reference: 28115305. DOI: 10.16288/j.yczz.16-321.

Edit History

  • Created by Frank Nicholas on 10 Jan 2021
  • Changed by Frank Nicholas on 10 Jan 2021