Infertility, ABHD16B-related
Phenotype Details
- Phene ID
- 4976
- Name
- Infertility, ABHD16B-related
- Phene Name
- N/A
- OMIA ID
- 2561
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2020
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1477 | Infertility | 388269595 | 1 | 13 | NC_037340.1:g.53957903G>A | NM_001038541.2:c.652C>T | NP_001033630.1:p.(Q218*) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Deutsche Holstein Schwarzbunt, Germany (Cattle) | 1033 | 9913 | http://purl.obolibrary.org/obo/VBO_0003152 |
Summary
Shan et al. (2020) reported "a Holstein sire named Tarantino who had been approved for artificial insemination that is based on normal semen characteristics (i.e., morphology, thermoresistance, motility, sperm concentration), but had no progeny after 412 first inseminations".
Molecular Genetics
Shen et al. (2020) reported that the most likely cause of the complete infertility of the Holstein bull Tarantino was homozygosity for the variant rs468948776 in the ABHD16B gene, which "is predominantly expressed in Leydig cells of the testis". Shan et al. (2022) were able to show that the "loss of function of ABHD16B leads to a capacitation disruption", which is sufficient to explain the infertility.