OMIA:001334-9913 : Sperm, short tail in Bos taurus (taurine cattle) |
In other species: pig , indicine cattle (zebu)
Categories: Reproductive system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 615451 (trait) , 615408 (gene)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2016
Species-specific name: Also known as stump sperm defect; one form of multiple morphological abnormalities of the sperm flagella (MMAF)
Species-specific symbol: MMAF
Species-specific description: FN thanks Hubert Pausch for advice on updating this entry.
Mapping: Pausch et al. (2016): "an 8.42 Mb segment on BTA13 (from 22,308,682 bp to 30,733,648 bp)"
Molecular basis: 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."
Breeds:
Ayrshire (Cattle) (VBO_0000120),
Charolais (Cattle) (VBO_0000177),
Holstein Friesian (Cattle) (VBO_0000239),
Polled Hereford (Cattle) (VBO_0000341),
Swedish Red (Cattle) (VBO_0000391).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| ARMC3 | armadillo repeat containing 3 | Bos taurus | 13 | NC_037340.1 (23964716..24057072) | ARMC3 | Homologene, Ensembl , NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending
order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column
headers.
WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 780 | Swedish Red (Cattle) | Sperm, short tail | ARMC3 | deletion, small (<=20) | Naturally occurring variant | ARS-UCD1.2 | 13 | g.24024660del | c.1442del | p.(A451fs*26) | rs797454424 | 2016 | 26923438 | Some variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001334-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2016 | Pausch, H., Venhoranta, H., Wurmser, C., Hakala, K., Iso-Touru, T., Sironen, A., Vingborg, R.K., Lohi, H., Söderquist, L., Fries, R., Andersson, M. : |
| A frameshift mutation in ARMC3 is associated with a tail stump sperm defect in Swedish Red (Bos taurus) cattle. BMC Genet 17:49, 2016. Pubmed reference: 26923438. DOI: 10.1186/s12863-016-0356-7. | |
| 2005 | Chenoweth, P.J. : |
| Genetic sperm defects. Theriogenology 64:457-68, 2005. Pubmed reference: 15993939. DOI: 10.1016/j.theriogenology.2005.05.005. | |
| 2003 | Revell, S.G., Cranfield, N., Cooley, W. : |
| Sperm tail-stump defect in a Holstein bull.[erratum appears in Vet Rec. 2003 Aug 30;153(9):268] Vet Rec 153:242-3, 2003. Pubmed reference: 12967148. DOI: 10.1136/vr.153.8.242. | |
| 1992 | Foote, R.H., Hough, S.R., Johnson, L.A., Kaproth, M. : |
| Electron microscopy and pedigree study in an Ayrshire bull with tail-stump sperm defects. Vet Rec 130:578-9, 1992. Pubmed reference: 1496771. DOI: 10.1136/vr.130.26.578. | |
| 1991 | Peet, R.L., Mullins, K.R. : |
| Sterility in a poll Hereford bull associated with the tail stump sperm defect. Aust Vet J 68:245, 1991. Pubmed reference: 1929994. DOI: 10.1111/j.1751-0813.1991.tb03220.x. | |
| 1987 | Vierula, M., Alanko, M., Andersson, M., Vanha-Perttula, T. : |
| Tail stump sperm defect in Ayrshire bulls: morphogenesis of the defect. Andrologia 19 Spec No:207-16, 1987. Pubmed reference: 3631552. DOI: 10.1111/j.1439-0272.1987.tb02334.x. | |
| Williams, G. : | |
| 'Tail-stump' defect affecting the spermatozoa of two Charolais bulls. Vet Rec 121:248-50, 1987. Pubmed reference: 3686784. DOI: 10.1136/vr.121.11.248. | |
| 1984 | Alanko, M., Vierula, M. , Remes, E. : |
| Tail stump sperm defect in Ayrshire bulls: sperm morphology and inheritance of the defect 10th International Congress on Animal Reproduction and Artificial Insemination, University of Illinois at Urbana-Champaign, Illinois. :abstract 522, 1984. | |
| 1983 | Vierula, M., Alanko, M., Remes, E., Vanha-Perttula, T. : |
| Ultrastructure of a tail stump sperm defect in an Ayrshire bull. Andrologia 15:303-9, 1983. Pubmed reference: 6638535. DOI: 10.1111/j.1439-0272.1983.tb00140.x. | |
| 1980 | Blom, E., Birch-Andersen, A. : |
| Ultrastructure of the tail stump sperm defect in the bull. Acta Pathol Microbiol Scand A 88:397-405, 1980. Pubmed reference: 7211385. DOI: 10.1111/j.1699-0463.1980.tb02512.x. | |
| 1976 | Blom, E. : |
| A sterilizing tail stump sperm defect in a Holstein-Friesian bull. Nord Vet Med 28:295-8, 1976. Pubmed reference: 940736. |
Edit History
- Created by Frank Nicholas on 04 Jun 2011
- Changed by Frank Nicholas on 04 Mar 2016
- Changed by Imke Tammen2 on 08 Oct 2023