OMIA 001334-9913 : Sperm, short tail in Bos taurus

In other species: pig

Possibly relevant human trait(s) and/or gene(s) (MIM number): 615451

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: 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."

Breed: Swedish Red.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
ARMC3 armadillo repeat containing 3 Bos taurus 13 NC_037340.1 (23964717..24057072) ARMC3 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Swedish Red Sperm, short tail ARMC3 deletion, small (<=20) UMD3.1 13 g.24301426delG c.1442delG p.A451fs26 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

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.
2010 Siqueira, J.B., Pinho, R.O., Guimarães, S.E., Miranda Neto, T., Guimarães, J.D. :
Immotile short-tail sperm defect in Nelore (Bos taurus indicus) breed bulls. Reprod Domest Anim 45:1122-5, 2010. Pubmed reference: 19735439. DOI: 10.1111/j.1439-0531.2009.01494.x.
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] Veterinary Record 153:242-3, 2003. Pubmed reference: 12967148.
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 Veterinary Record 130:578-579, 1992. Pubmed reference: 1496771.
1991 Peet, R.L., Mullins, K.R. :
Sterility in a Poll Hereford Bull Associated with the Tail Stump Sperm Defect Australian Veterinary Journal 68:245, 1991. Pubmed reference: 1929994.
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.
Williams, G. :
'Tail-stump' defect affecting the spermatozoa of two Charolais bulls. Vet Rec 121:248-50, 1987. Pubmed reference: 3686784.
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.
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.
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