OMIA:003094-9913 : Male subfertility, ABCA16-related in Bos taurus (taurine cattle)

Categories: Reproductive system phene

Single-gene trait/disorder: yes

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2026

Mapping: Rezende et al. (2018) identified genomic regions on BTA11 and BTA25 associated with dairy sire fertility in US Jersey sires. 

Molecular basis: Sosa et al. (2026) "identified a deleterious missense mutation on FER1L5 (BTA11) [omia.variant:1950] and a deleterious frameshift variant on ABCA16 (BTA25) [omia.variant:1949] carried by low-fertility sires. ... Both variants affected sperm acrosomal reaction, with lower proportions of reacted sperm in the FER1L5 and ABCA16 variants compared with WT. See OMIA:003093-9913 for details on the FER1L5 variant.

Breed: Jersey (Cattle) (VBO_0000250).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
ABCA16 ATP binding cassette subfamily A member 16 Bos taurus 25 NC_037352.1 (19409520..19623835) ABCA16 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.

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 Variant Type Variant Effect Source of Genetic Variant AVCG Pathogenicity Classification* Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
1949 Jersey (Cattle) Male subfertility ABCA16 deletion, small (<=20) frameshift Naturally occurring variant Not currently evaluated ARS-UCD2.0 25 NC_037352.1:19583680del XM_059881562.1:c.3545del XP_059737545.1:p.(F1182fs) rs453330152 2026 42855046

* Variant pathogenicity for single-gene diseases as evaluated according to the Animal Variant Classification Guidelines (AVCG) by the Variant Pathogenicity Working Group of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization (AGTS) Standing Committee: P = pathogenic, LP = likely pathogenic, VUS = variant of unknown significance, LB = likely benign, B = benign. For more information (including details on the classification of each variant) see LINKS.

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Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2026). OMIA:003094-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

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.

2026 Sosa, F., Pacheco, H.A., Castro, B., Moreno, E., Anta-Galván, E., Chasi, B., Al-Katanani, F., Lauber, M., Jaramillo, E., Miller, E., Peñagaricano, F., Ortega, M.S. :
Identification and characterization of 2 major mutations affecting sire fertility in Jersey cattle: Effects on fertilization capacity and early embryonic development. J Dairy Sci :S0022-0302(26)03342-4, 2026. Pubmed reference: 42855046. DOI: 10.3168/jds.2026-28893.
2018 Rezende, F.M., Dietsch, G.O., Peñagaricano, F. :
Genetic dissection of bull fertility in US Jersey dairy cattle. Anim Genet 49:393-402, 2018. Pubmed reference: 30109710. DOI: 10.1111/age.12710.

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  • Created by Imke Tammen on 12 Oct 2026
  • Changed by Imke Tammen on 12 Oct 2026