Male subfertility, TMEM95-related
Phenotype Details
- Phene ID
- 3680
- Name
- Male subfertility, TMEM95-related
- Phene Name
- N/A
- OMIA ID
- 1902
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2014
Molecular Genetics
As reported by Pausch et al. (2014), "whole-genome re-sequencing data of 43 animals revealed a candidate causal nonsense mutation (rs378652941, c.483C>A, p.Cys161X) in the transmembrane protein 95 encoding gene TMEM95 which was subsequently validated in 1990 AI bulls. Immunohistochemical investigations evidenced that TMEM95 is located at the surface of spermatozoa of fertile animals whereas it is absent in spermatozoa of subfertile animals". Only "1.7% of 35,671 inseminations" were successful in bulls that are homozygous for the mutation.