Abortion (embryonic lethality), ANXA10-related
- Phene ID
- 3988
- Name
- Abortion (embryonic lethality), ANXA10-related
- Phene Name
- N/A
- OMIA ID
- 2083
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2016
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 927 | Abortion (embryonic lethality), ANXA10-related | 388265261 | 1 | 8 | N/A | N/A | N/A |
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Japanese Black, Japan (Cattle) | 31 | 9913 | http://purl.obolibrary.org/obo/VBO_0004987 |
In this entry, embryonic mortality is a maternal trait, i.e. the mortaility is a consequence of the genotype of the dam, rather than the genotype of the embryo. Sasaki et al. (2016) "genotyped 2693 cows that were randomly selected from 79,617 reproductive females. The heterozygote occurred in 141 of 2693 animals, but the homozygous for the risk-allele was not observed in the population. Results showed that the CNVR_322 heterozygotes (+/−) were significantly associated with embryonic mortality at 30–60 D after AI, compared to non-CNVR_322 (+/+) animals".
A genome-wide CNV (copy number variation) association study of 791 Japanese Black cattle enabled Sasaki et al. (2016) to identify a "34-kb deleted-type" CNV region, identified as CNVR_322, "associated with embryonic mortality at 30-60 days after artificial insemination. The CNV harbors exon 2 to 6 of ANNEXIN A10 (ANXA10). . . . Western blot analysis showed that the CNV results in a null allele of ANXA10."