Asthenospermia
- Phene ID
- 4151
- Name
- Asthenospermia
- Phene Name
- N/A
- OMIA ID
- 2167
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2019
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1032 | Asthenospermia | 388308333 | 1 | 25 | g.26880841C>T | N/A | N/A |
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Nordic Red (Cattle) | 911 | 9913 | http://purl.obolibrary.org/obo/VBO_0016847 |
Iso-Touru et al. (2019): "The [two affected young Nordic Red] bulls were related through a common ancestor on both their paternal and maternal ancestry. Thus, a recessive mode of inheritance of asthenospermia was suspected. "
Iso-Touru et al. (2019): "Whole genome-sequencing uncovered that both asthenospermic bulls were homozygous for a mutation that disrupts a canonical 5' splice donor site of CCDC189 encoding the coiled-coil domain containing protein 189. Transcription analysis showed that the derived allele activates a cryptic splice site resulting in a frameshift and premature termination of translation. The mutated CCDC189 protein is truncated by more than 40%, thus lacking the flagellar C1a complex subunit C1a-32 that is supposed to modulate the physiological movement of the sperm flagella."