Sperm, short tail
Phenotype Details
- Phene ID
- 3093
- Name
- Sperm, short tail
- Phene Name
- Also known as stump sperm defect; one form of multiple morphological abnormalities of the sperm flagella (MMAF)
- OMIA ID
- 1334
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2016
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 780 | Sperm, short tail | 388272164 | 1 | 13 | g.24024660del | c.1442del | p.(A451fs*26) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Swedish Red (Cattle) | 940 | 9913 | http://purl.obolibrary.org/obo/VBO_0000391 |
Summary
FN thanks Hubert Pausch for advice on updating this entry.
Molecular Genetics
Pausch et al. (2016): "a 1 bp deletion (Chr13: 24,301,425 bp, ss1815612719) in the eleventh exon of the armadillo repeat containing 3-encoding gene (ARMC3) that was compatible with the supposed recessive mode of inheritance. The deletion is expected to alter the reading frame and to induce premature translation termination (p.A451fs26). The mutated protein is shortened by 401 amino acids (46 %) and lacks domains that are likely essential for normal protein function."